3-183855724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855724
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855724
    reference: chr 3
allele count: 2
allele frequency: 1.649130908011478e-5
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.985C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.545C>T
  hgvsp: ENSP00000273783.3:p.Thr182Met
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.545C>T
  hgvsp: ENSP00000409142.1:p.Thr182Met
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.500C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.509C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.546C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1261C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25600
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9274
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr182Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

3-183855726-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855726
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855726
    reference: chr 3
allele count: 3
allele frequency: 2.473573984597879e-5
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.547A>G
  hgvsp: ENSP00000273783.3:p.Met183Val
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.502A>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.548A>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.511A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.547A>G
  hgvsp: ENSP00000409142.1:p.Met183Val
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1263A>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.987A>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10810
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10181
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25606
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met183Val
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

3-183855738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855738
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855738
    reference: chr 3
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.999G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.559G>A
  hgvsp: ENSP00000273783.3:p.Glu187Lys
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.559G>A
  hgvsp: ENSP00000409142.1:p.Glu187Lys
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1275G>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.523G>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.514G>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.560G>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.12G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10839
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25608
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu187Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

3-183855751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855751
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855751
    reference: chr 3
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.572G>A
  hgvsp: ENSP00000273783.3:p.Ser191Asn
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1288G>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.536G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.572G>A
  hgvsp: ENSP00000409142.1:p.Ser191Asn
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.573G>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.25G>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.527G>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1012G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4036
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser191Asn
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/3-183855755-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855755
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855755
    reference: chr 3
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.531C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.576C>A
  hgvsp: ENSP00000273783.3:p.His192Gln
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.29C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.577C>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1016C>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.540C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1292C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.576C>A
  hgvsp: ENSP00000409142.1:p.His192Gln
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His192Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

3-183855760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855760
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855760
    reference: chr 3
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.581C>T
  hgvsp: ENSP00000273783.3:p.Thr194Ile
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.582C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.581C>T
  hgvsp: ENSP00000409142.1:p.Thr194Ile
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1297C>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1021C>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.545C>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.536C>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.34C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr194Ile
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

3-183855763-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855763
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855763
    reference: chr 3
allele count: 3
allele frequency: 2.474553343121567e-5
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1300G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.584G>A
  hgvsp: ENSP00000409142.1:p.Arg195His
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.539G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1024G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.584G>A
  hgvsp: ENSP00000273783.3:p.Arg195His
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.548G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.585G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.37G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9201
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg195His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-183855770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855770
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855770
    reference: chr 3
allele count: 4
allele frequency: 3.300275573010346e-5
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.555C>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1031C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.591C>T
  hgvsp: ENST00000444495.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.591C>T
  hgvsp: ENST00000273783.3:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1307C>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.44C>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.546C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.592C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His197His
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-183855771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855771
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855771
    reference: chr 3
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.593G>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.45G>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1032G>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.556G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.592G>A
  hgvsp: ENSP00000273783.3:p.Glu198Lys
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.592G>A
  hgvsp: ENSP00000409142.1:p.Glu198Lys
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1308G>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.547G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10788
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu198Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-183855771-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855771
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855771
    reference: chr 3
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.593G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1308G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.592G>C
  hgvsp: ENSP00000273783.3:p.Glu198Gln
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.45G>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.547G>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1032G>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.556G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.592G>C
  hgvsp: ENSP00000409142.1:p.Glu198Gln
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu198Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

3-183855776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855776
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855776
    reference: chr 3
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.597C>T
  hgvsp: ENST00000273783.3:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1313C>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.552C>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1037C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.598C>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.50C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.597C>T
  hgvsp: ENST00000444495.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.561C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp199Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

3-183855779-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855779
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855779
    reference: chr 3
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.555T>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.53T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1316T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.600T>C
  hgvsp: ENST00000444495.1:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1040T>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.564T>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.601T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.600T>C
  hgvsp: ENST00000273783.3:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn200Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

3-183855782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855782
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855782
    reference: chr 3
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1043G>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.604G>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.567G>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.558G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1319G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.603G>A
  hgvsp: ENST00000273783.3:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.603G>A
  hgvsp: ENST00000444495.1:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.56G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val201Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

3-183855793-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855793
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855793
    reference: chr 3
allele count: 50
allele frequency: 4.291329797277581e-4
allele num: 116514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1054T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.614T>G
  hgvsp: ENSP00000273783.3:p.Val205Gly
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1330T>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.67T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.614T>G
  hgvsp: ENSP00000409142.1:p.Val205Gly
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.578T>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.569T>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.615T>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10213
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 2
hgvs: p.Val205Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/3-183855796-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855796
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855796
    reference: chr 3
allele count: 2
allele frequency: 1.651991475723985e-5
allele num: 121066
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1057A>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.572A>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.581A>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1333A>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.617A>C
  hgvsp: ENSP00000409142.1:p.Asp206Ala
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.70A>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.618A>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.617A>C
  hgvsp: ENSP00000273783.3:p.Asp206Ala
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp206Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

3-183855796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855796
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855796
    reference: chr 3
allele count: 4
allele frequency: 3.30398295144797e-5
allele num: 121066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.572A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.617A>G
  hgvsp: ENSP00000273783.3:p.Asp206Gly
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.70A>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1057A>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.618A>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.581A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.617A>G
  hgvsp: ENSP00000409142.1:p.Asp206Gly
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1333A>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5161
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp206Gly
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-183855810-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855810
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855810
    reference: chr 3
allele count: 2
allele frequency: 1.650600818698006e-5
allele num: 121168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1071A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1347A>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.586A>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.632A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.631A>G
  hgvsp: ENSP00000409142.1:p.Arg211Gly
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.631A>G
  hgvsp: ENSP00000273783.3:p.Arg211Gly
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.84A>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.595A>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg211Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-183855812-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855812
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855812
    reference: chr 3
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1073G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.633G>C
  hgvsp: ENSP00000273783.3:p.Arg211Ser
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.634G>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: ENSG00000145191
  ensembl transcript: ENST00000498831
  gene symbol: EIF2B5
  hgvsc: ENST00000498831.1:n.588G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.633G>C
  hgvsp: ENSP00000409142.1:p.Arg211Ser
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.597G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1349G>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.86G>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg211Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

3-183855834-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855834
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855834
    reference: chr 3
allele count: 3
allele frequency: 2.476350849388341e-5
allele num: 121146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.619C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.655C>G
  hgvsp: ENSP00000409142.1:p.Gln219Glu
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1095C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1371C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.656C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.655C>G
  hgvsp: ENSP00000273783.3:p.Gln219Glu
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.108C>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln219Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-183855841-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855841
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855841
    reference: chr 3
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1102T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.662T>C
  hgvsp: ENSP00000273783.3:p.Leu221Pro
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.662T>C
  hgvsp: ENSP00000409142.1:p.Leu221Pro
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.115T>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.626T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1378T>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.663T>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu221Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-183855843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855843
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855843
    reference: chr 3
allele count: 2
allele frequency: 1.651091371396493e-5
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1380C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.664C>T
  hgvsp: ENSP00000273783.3:p.Arg222Trp
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1104C>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.628C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.665C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.664C>T
  hgvsp: ENSP00000409142.1:p.Arg222Trp
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.117C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg222Trp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-183855844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855844
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855844
    reference: chr 3
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.665G>A
  hgvsp: ENSP00000273783.3:p.Arg222Gln
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.665G>A
  hgvsp: ENSP00000409142.1:p.Arg222Gln
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.118G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1381G>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1105G>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.629G>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.666G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4670
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg222Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-183855846-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855846
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855846
    reference: chr 3
allele count: 3
allele frequency: 2.476309967973058e-5
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1383C>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.631C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.668C>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.120C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.667C>G
  hgvsp: ENSP00000273783.3:p.Arg223Gly
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1107C>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.667C>G
  hgvsp: ENSP00000409142.1:p.Arg223Gly
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25981
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4670
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg223Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

3-183855846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855846
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855846
    reference: chr 3
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1107C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.667C>T
  hgvsp: ENSP00000409142.1:p.Arg223Cys
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.667C>T
  hgvsp: ENSP00000273783.3:p.Arg223Cys
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1383C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.668C>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.631C>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.120C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg223Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-183855847-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855847
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855847
    reference: chr 3
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.668G>A
  hgvsp: ENSP00000273783.3:p.Arg223His
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.669G>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.632G>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.121G>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1108G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.668G>A
  hgvsp: ENSP00000409142.1:p.Arg223His
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1384G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25980
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg223His
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

3-183855851-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855851
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855851
    reference: chr 3
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1388T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.672T>C
  hgvsp: ENST00000273783.3:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.672T>C
  hgvsp: ENST00000444495.1:c.672T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.125T>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.673T>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.636T>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1112T>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe224Phe
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-183855860-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855860
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855860
    reference: chr 3
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.134T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.681T>C
  hgvsp: ENST00000273783.3:c.681T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1121T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.681T>C
  hgvsp: ENST00000444495.1:c.681T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1397T>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.682T>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.645T>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro227Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-183855863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855863
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855863
    reference: chr 3
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1400G>A
  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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.648G>A
  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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.137G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.684G>A
  hgvsp: ENST00000273783.3:c.684G>A(p.%3D)
  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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.685G>A
  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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1124G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.684G>A
  hgvsp: ENST00000444495.1:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25983
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
hgvs: c.684G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

3-183855866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855866
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855866
    reference: chr 3
allele count: 4
allele frequency: 3.299894403379092e-5
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.684+3G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.685+3G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.648+3G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1124+3G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1403G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.684+3G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.137+3G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25984
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
hgvs: c.684+3G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

3-183855870-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855870
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855870
    reference: chr 3
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1124+7G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.137+7G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1407G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.685+7G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.684+7G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.684+7G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.648+7G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: c.684+7G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

3-183855872-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855872
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855872
    reference: chr 3
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.684+9A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.684+9A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.137+9A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1409A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1124+9A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.685+9A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.648+9A>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

3-183855875-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855875
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855875
    reference: chr 3
allele count: 14
allele frequency: 1.154620129977237e-4
allele num: 121252
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.684+12T>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1124+12T>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.685+12T>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1412T>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.684+12T>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.137+12T>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.648+12T>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

3-183855881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855881
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855881
    reference: chr 3
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.137+18G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1124+18G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.648+18G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1418G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.685+18G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.684+18G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.684+18G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

3-183855896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855896
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855896
    reference: chr 3
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.684+33G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1433G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.684+33G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.685+33G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1124+33G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.648+33G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.137+33G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25997
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

3-183855899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855899
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855899
    reference: chr 3
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1124+36G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.684+36G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.684+36G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1436G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.648+36G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.685+36G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.137+36G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

3-183855906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855906
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855906
    reference: chr 3
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1124+43G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.137+43G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.684+43G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.685+43G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1443G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.648+43G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.684+43G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

3-183855913-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855913
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855912
    reference: chr 3
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.685-38delG
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1125-38delG
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.138-38delG
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.649-38delG
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.686-38delG
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1453delG
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.685-38delG
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: TG
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

3-183855915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855915
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855915
    reference: chr 3
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.138-39G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.686-39G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.685-39G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1125-39G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.685-39G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.649-39G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1452G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26000
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-183855916-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855916
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855916
    reference: chr 3
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.649-38G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.685-38G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1125-38G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.686-38G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.138-38G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1453G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.685-38G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

3-183855927-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855927
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855928
    reference: chr 3
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.685-24dupA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1125-24dupA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.686-24dupA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.138-24dupA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1467dupA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.685-24dupA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.649-24dupA
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

3-183855928-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855928
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855928
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1465A>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.649-26A>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.686-26A>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.138-26A>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1125-26A>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.685-26A>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.685-26A>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26001
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-183855938-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855938
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855937
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.649-14delA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1125-14delA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.138-14delA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.685-14delA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.686-14delA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.685-14delA
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1477delA
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26003
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: TA
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

3-183855954-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855954
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855954
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.685A>T
  hgvsp: ENSP00000273783.3:p.Ser229Cys
  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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.649A>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1491A>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: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.1A>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.138A>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.686A>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.685A>T
  hgvsp: ENSP00000409142.1:p.Ser229Cys
  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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1125A>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser229Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

3-183855960-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855960
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855960
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.691T>C
  hgvsp: ENSP00000409142.1:p.Phe231Leu
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1131T>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.144T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.691T>C
  hgvsp: ENSP00000273783.3:p.Phe231Leu
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.7T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1497T>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.655T>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.692T>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26004
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe231Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

3-183855968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855968
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855968
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.152C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.699C>T
  hgvsp: ENST00000273783.3:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.699C>T
  hgvsp: ENST00000444495.1:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.15C>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1139C>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.663C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1505C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.700C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26002
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly233Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

3-183855969-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855969
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855969
    reference: chr 3
allele count: 9
allele frequency: 7.412898443291327e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.701A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.700A>G
  hgvsp: ENSP00000273783.3:p.Ser234Gly
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.153A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1506A>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1140A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.700A>G
  hgvsp: ENSP00000409142.1:p.Ser234Gly
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.664A>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: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.16A>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26003
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser234Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

3-183855973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855973
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855973
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.704G>A
  hgvsp: ENSP00000409142.1:p.Ser235Asn
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.668G>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.705G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.704G>A
  hgvsp: ENSP00000273783.3:p.Ser235Asn
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1144G>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: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.20G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1510G>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.157G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser235Asn
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

3-183855977-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855977
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855977
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.672T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.708T>C
  hgvsp: ENST00000273783.3:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.708T>C
  hgvsp: ENST00000444495.1:c.708T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.709T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1514T>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1148T>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: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.24T>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.161T>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26001
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp236Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD

3-183855983-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855983
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855983
    reference: chr 3
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.714G>C
  hgvsp: ENST00000273783.3:c.714G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.714G>C
  hgvsp: ENST00000444495.1:c.714G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.30G>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.715G>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.167G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1520G>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.678G>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1154G>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val238Val
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: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

3-183855989-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855989
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855989
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1526T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.720T>G
  hgvsp: ENST00000444495.1:c.720T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1160T>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: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.36T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.720T>G
  hgvsp: ENST00000273783.3:c.720T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.684T>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.721T>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.173T>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val240Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-183855994-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855994
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855994
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1165A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.725A>G
  hgvsp: ENSP00000409142.1:p.Tyr242Cys
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.725A>G
  hgvsp: ENSP00000273783.3:p.Tyr242Cys
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1531A>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: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.41A>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.689A>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.178A>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.726A>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26002
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr242Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

3-183855995-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183855995
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183855995
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.726T>C
  hgvsp: ENST00000273783.3:c.726T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.179T>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.727T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1532T>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1166T>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.690T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.726T>C
  hgvsp: ENST00000444495.1:c.726T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.42T>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr242Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

3-183856007-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856007
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856007
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.738T>G
  hgvsp: ENSP00000409142.1:p.Asp246Glu
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.739T>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.702T>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: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.54T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.738T>G
  hgvsp: ENSP00000273783.3:p.Asp246Glu
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1178T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1544T>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.191T>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26002
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp246Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/3-183856016-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856016
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856016
    reference: chr 3
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.200C>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1187C>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.711C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.747C>A
  hgvsp: ENST00000444495.1:c.747C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1553C>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.747C>A
  hgvsp: ENST00000273783.3:c.747C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.63C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.748C>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile249Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-183856029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856029
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856029
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.760C>T
  hgvsp: ENSP00000273783.3:p.Pro254Ser
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.724C>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: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.76C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1566C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.761C>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.213C>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1200C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.760C>T
  hgvsp: ENSP00000409142.1:p.Pro254Ser
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26002
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro254Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS

3-183856030-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856030
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856030
    reference: chr 3
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.761C>T
  hgvsp: ENSP00000409142.1:p.Pro254Leu
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.761C>T
  hgvsp: ENSP00000273783.3:p.Pro254Leu
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1567C>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: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.725C>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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1201C>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.214C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.762C>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: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.77C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro254Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

3-183856032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856032
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856032
    reference: chr 3
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.727C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.763C>T
  hgvsp: ENSP00000273783.3:p.Gln255Ter
  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: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1203C>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: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.216C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.763C>T
  hgvsp: ENSP00000409142.1:p.Gln255Ter
  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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.764C>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: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.79C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1569C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln255Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

3-183856046-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856046
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856046
    reference: chr 3
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+12A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.766+12A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1583A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+12A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+12A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+12A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+12A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+12A>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-183856049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856049
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856049
    reference: chr 3
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+15G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+15G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1586G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+15G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.766+15G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+15G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+15G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+15G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-183856052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856052
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856052
    reference: chr 3
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+18G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+18G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+18G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+18G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.766+18G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+18G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1589G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+18G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

3-183856055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856055
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856055
    reference: chr 3
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+21G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+21G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1592G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+21G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+21G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+21G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.766+21G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+21G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26002
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-183856057-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856057
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856057
    reference: chr 3
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.766+23T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+23T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1594T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+23T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+23T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+23T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+23T>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+23T>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

3-183856063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856063
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856063
    reference: chr 3
allele count: 6
allele frequency: 4.942502224126001e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+29C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+29C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1600C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.766+29C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+29C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+29C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+29C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+29C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

3-183856077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856077
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856077
    reference: chr 3
allele count: 21
allele frequency: 1.730046793646609e-4
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+1614C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+43C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+43C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.766+43C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+43C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+43C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+43C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+43C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10853
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

3-183856659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856659
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856659
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.791G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+625G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+2196G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+625G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+625G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+625G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+625G>A
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+625G>A
  variant of: http://identifiers.org/hgnc/3261
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

3-183856673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856673
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856673
    reference: chr 3
allele count: 1
allele frequency: 1.607717041800643e-3
allele num: 622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+2210C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+639C>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: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.805C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+639C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+639C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+639C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+639C>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+639C>T
  variant of: http://identifiers.org/hgnc/3261
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-183856747-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856747
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856747
    reference: chr 3
allele count: 1
allele frequency: 5.376344086021506e-3
allele num: 186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+713T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+713T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.859+20T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+713T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+713T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+2284T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+713T>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+713T>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

3-183856747-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856747
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856744
    reference: chr 3
allele count: 2
allele frequency: 1.075268817204301e-2
allele num: 186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+728_729+730delGTT
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.859+35_859+37delGTT
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+728_81+730delGTT
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+728_218+730delGTT
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+728_765+730delGTT
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+728_1205+730delGTT
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+728_765+730delGTT
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+2299_245+2301delGTT
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: TTTG
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-183856750-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856750
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856750
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+716G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.859+23G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+716G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+2287G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+716G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+716G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+716G>T
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+716G>T
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

3-183856765-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856765
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856765
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 66
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+731A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+731A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+731A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.859+38A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000409142
  ensembl transcript: ENST00000444495
  gene symbol: EIF2B5
  hgvsc: ENST00000444495.1:c.765+731A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+731A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+2302A>G
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+731A>G
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

3-183856771-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 183856771
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 183856771
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 48
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.765+737G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000468748
  gene symbol: EIF2B5
  hgvsc: ENST00000468748.1:n.218+737G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491144
  gene symbol: EIF2B5
  hgvsc: ENST00000491144.1:n.1205+737G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000273783
  ensembl transcript: ENST00000273783
  gene symbol: EIF2B5
  hgvsc: ENST00000273783.3:c.765+737G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000491008
  gene symbol: EIF2B5
  hgvsc: ENST00000491008.1:n.729+737G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl protein: ENSP00000408198
  ensembl transcript: ENST00000432982
  gene symbol: EIF2B5
  hgvsc: ENST00000432982.1:c.245+2308G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000479833
  gene symbol: EIF2B5
  hgvsc: ENST00000479833.1:n.81+737G>C
  variant of: http://identifiers.org/hgnc/3261
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145191
  ensembl transcript: ENST00000481054
  gene symbol: EIF2B5
  hgvsc: ENST00000481054.1:n.859+44G>C
  variant of: http://identifiers.org/hgnc/3261
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  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: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
reference allele: G

GenotypeQuality
all individuals: 4502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
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
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.302e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 2.55074e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.113e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
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SIO_000300: 3.3e0

DP
type: SiteQuality
SIO_000300: 2.550643e6

FS
type: SiteQuality
SIO_000300: 2.184e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-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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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

VQSLOD
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BaseQRankSum
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SIO_000300: -3.298e0

MQRankSum
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SIO_000300: 6.97e-1

DP
type: SiteQuality
SIO_000300: 2.550271e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

QD
type: SiteQuality
SIO_000300: 1.251e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.403e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 2.550885e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2982
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.501e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.026e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 2.551134e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-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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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: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 2.549906e6

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 9.330000000000001e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001110410852015e-5
allele num: 66642
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.308e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.004563468235859e-5
allele num: 66616
num of homozygotes: 0

InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
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allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66612
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
type: Population
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Other
type: Population
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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DP
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QD
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FS
type: SiteQuality
SIO_000300: 4.85e-1

ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.52e-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
all individuals: 105
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.192e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

DP
type: SiteQuality
SIO_000300: 2.547354e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.147e0

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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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.93050193050193e-4
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.916e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -5.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.332e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 4.17e-1

DP
type: SiteQuality
SIO_000300: 2.54659e6

QD
type: SiteQuality
SIO_000300: 1.348e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.275e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.546287e6

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-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: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.42e-1

DP
type: SiteQuality
SIO_000300: 2.546624e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e0

FS
type: SiteQuality
SIO_000300: 7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.792e0

QD
type: SiteQuality
SIO_000300: 1.256e1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.101e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

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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bin: 8.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 8.445945945945946e-4
allele num: 9472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.574132492113565e-4
allele num: 63400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.747335313646689e-4
allele num: 11446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.426307448494453e-3
allele num: 6310
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.336448598130841e-3
allele num: 856
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.94e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.208e0

DP
type: SiteQuality
SIO_000300: 2.539345e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e0

FS
type: SiteQuality
SIO_000300: 2.04033e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

MQ
type: SiteQuality
SIO_000300: 5.883e1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.32e0

QD
type: SiteQuality
SIO_000300: 1.57e0

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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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: 8646
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005349522149426e-5
allele num: 66548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.515039e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 9.186e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.281e0

VQSLOD
type: SiteQuality
SIO_000300: -4.237e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
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European (Finnish)
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allele count: 1
allele frequency: 1.517911353976928e-4
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.005349522149426e-5
allele num: 66548
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.237e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 9.186e1

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 8.300000000000001e0

DP
type: SiteQuality
SIO_000300: 2.515039e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003003003003003e-5
allele num: 66600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
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: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.356e0

QD
type: SiteQuality
SIO_000300: 1.268e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.064e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.5179e6

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

GenotypeQuality
all individuals: 151
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4662
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25979
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4023
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3048
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3420
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819063788503517e-4
allele num: 16492
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 2.518981e6

MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.534e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.222e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5287
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25979
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4535
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.51918e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.145e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25981
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.057e0

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.294e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

DP
type: SiteQuality
SIO_000300: 2.519314e6

GenotypeQuality
all individuals: 3424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25979
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: -1.316e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.1738e1

DP
type: SiteQuality
SIO_000300: 2.519423e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8988
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

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

GenotypeQuality
all individuals: 3049
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4021
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819063788503517e-4
allele num: 16492
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

FS
type: SiteQuality
SIO_000300: 2.648e0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

DP
type: SiteQuality
SIO_000300: 2.519703e6

QD
type: SiteQuality
SIO_000300: 1.11e1

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

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

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4021
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 4670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3423
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25981
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

DP
type: SiteQuality
SIO_000300: 2.519703e6

FS
type: SiteQuality
SIO_000300: 2.648e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.11e1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4025
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9022
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.44e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 4.13e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 2.519718e6

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25980
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9040
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4673
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

DP
type: SiteQuality
SIO_000300: 2.519958e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

FS
type: SiteQuality
SIO_000300: 4.433e0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.823e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
all individuals: 4537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9097
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 25981
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.645e1

DP
type: SiteQuality
SIO_000300: 2.52091e6

FS
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

GenotypeQuality
all individuals: 79
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
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variant carriers: 0

GenotypeQuality
all individuals: 5303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3436
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 4537
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9121
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11562
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European (Non-Finnish)
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allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

MQRankSum
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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SIO_000300: -2.11e-1

QD
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ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 4.626416840157298e-4
allele num: 8646
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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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
allele num: 66650
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Latino
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allele frequency: 0.0e0
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VQSLOD
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ReadPosRankSum
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QD
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MQRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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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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allele frequency: 6.062810719049351e-5
allele num: 16494
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African
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ClippingRankSum
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DP
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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SIO_000300: 5.951e1

VQSLOD
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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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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10346
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
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Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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DP
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FS
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QD
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InbreedingCoeff
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MQ
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SIO_000300: 5.954e1

VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.799910004499775e-4
allele num: 66670
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8648
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South Asian
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African
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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
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

QD
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BaseQRankSum
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ClippingRankSum
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DP
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MQ
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
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DP
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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African
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allele count: 2
allele frequency: 1.926782273603083e-4
allele num: 10380
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East Asian
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South Asian
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European (Finnish)
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num of homozygotes: 0

ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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FS
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Latino
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European (Finnish)
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South Asian
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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South Asian
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Other
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East Asian
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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Latino
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African
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South Asian
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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Other
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East Asian
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South Asian
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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MQ
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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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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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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Latino
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African
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MQ
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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South Asian
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European (Finnish)
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East Asian
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African
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ClippingRankSum
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QD
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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African
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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FS
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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African
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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African
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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BaseQRankSum
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DP
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MQ
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GenotypeQuality
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European (Non-Finnish)
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MQ
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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African
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European (Finnish)
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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European (Non-Finnish)
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East Asian
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South Asian
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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South Asian
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European (Non-Finnish)
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East Asian
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MQRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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FS
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InbreedingCoeff
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DP
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African
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MQ
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InbreedingCoeff
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DP
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QD
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MQ
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DP
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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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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European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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DP
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MQRankSum
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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 count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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SIO_000300: -4.259e0

ClippingRankSum
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SIO_000300: 1.05e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.008e0

BaseQRankSum
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MQRankSum
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MQ
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DP
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QD
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FS
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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SIO_000300: -1.782e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
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QD
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DP
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FS
type: SiteQuality
SIO_000300: 5.178e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.599e0

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

InbreedingCoeff
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SIO_000300: 0.0e0

DP
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.093e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

QD
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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variant carriers: 0

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

East Asian
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European (Finnish)
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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European (Finnish)
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South Asian
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African
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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InbreedingCoeff
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16508
num of homozygotes: 0

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

Latino
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

BaseQRankSum
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SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

VQSLOD
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MQ
type: SiteQuality
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QD
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.480000000000001e-2

DP
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
allele num: 0
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

South Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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Other
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InbreedingCoeff
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SIO_000300: -6.92e-2

VQSLOD
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FS
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MQRankSum
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.516e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
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SIO_000300: 7.27e-1

QD
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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

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

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

East Asian
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.770000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.3327e4

QD
type: SiteQuality
SIO_000300: 1.33e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele num: 0
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 4.347826086956522e-2
allele num: 46
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

Latino
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Other
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.3327e4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.770000000000001e-2

ReadPosRankSum
type: SiteQuality
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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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GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: NaN
allele num: 0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.89e-2

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 2.2085e4

MQRankSum
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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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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variant carriers: 0

African
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num of homozygotes: 0

South 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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East Asian
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Other
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Latino
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

DP
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SIO_000300: 2.0816e4

FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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BaseQRankSum
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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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South Asian
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European (Non-Finnish)
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