8-128428274-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128428274
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 128428274
    reference: chr 8
allele count: 97
allele frequency: 1.818386322735453e-3
allele num: 53344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000502082
  gene symbol: CASC8
  hgvsc: ENST00000502082.1:n.1176+4800A>C
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000523825
  gene symbol: CASC8
  hgvsc: ENST00000523825.1:n.546+4800A>C
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000375557
  ensembl transcript: ENST00000391675
  gene symbol: POU5F1B
  hgvsc: ENST00000391675.1:c.163T>G
  hgvsp: ENSP00000375557.1:p.Ser55Ala
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000419298
  ensembl transcript: ENST00000465342
  gene symbol: POU5F1B
  hgvsc: ENST00000465342.2:c.163T>G
  hgvsp: ENSP00000419298.2:p.Ser55Ala
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000501396
  gene symbol: CASC8
  hgvsc: ENST00000501396.1:n.546+4800A>C
  variant of: http://identifiers.org/hgnc/45129
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29169
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 9.75e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30145
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 7.5e0
  variant carriers: 2
hgvs: p.Ser55Ala
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

8-128428282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128428282
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 128428282
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 59470
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000419298
  ensembl transcript: ENST00000465342
  gene symbol: POU5F1B
  hgvsc: ENST00000465342.2:c.171G>A
  hgvsp: ENST00000465342.2:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000502082
  gene symbol: CASC8
  hgvsc: ENST00000502082.1:n.1176+4792C>T
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000375557
  ensembl transcript: ENST00000391675
  gene symbol: POU5F1B
  hgvsc: ENST00000391675.1:c.171G>A
  hgvsp: ENST00000391675.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000523825
  gene symbol: CASC8
  hgvsc: ENST00000523825.1:n.546+4792C>T
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000501396
  gene symbol: CASC8
  hgvsc: ENST00000501396.1:n.546+4792C>T
  variant of: http://identifiers.org/hgnc/45129
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26685
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val57Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

8-128428285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128428285
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 128428285
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 62652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000375557
  ensembl transcript: ENST00000391675
  gene symbol: POU5F1B
  hgvsc: ENST00000391675.1:c.174G>A
  hgvsp: ENSP00000375557.1:p.Trp58Ter
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000419298
  ensembl transcript: ENST00000465342
  gene symbol: POU5F1B
  hgvsc: ENST00000465342.2:c.174G>A
  hgvsp: ENSP00000419298.2:p.Trp58Ter
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000502082
  gene symbol: CASC8
  hgvsc: ENST00000502082.1:n.1176+4789C>T
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000501396
  gene symbol: CASC8
  hgvsc: ENST00000501396.1:n.546+4789C>T
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000523825
  gene symbol: CASC8
  hgvsc: ENST00000523825.1:n.546+4789C>T
  variant of: http://identifiers.org/hgnc/45129
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25171
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp58Ter
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

8-128428286-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128428286
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 128428286
    reference: chr 8
allele count: 1
allele frequency: 1.570006594027695e-5
allele num: 63694
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000419298
  ensembl transcript: ENST00000465342
  gene symbol: POU5F1B
  hgvsc: ENST00000465342.2:c.175G>C
  hgvsp: ENSP00000419298.2:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000502082
  gene symbol: CASC8
  hgvsc: ENST00000502082.1:n.1176+4788C>G
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000375557
  ensembl transcript: ENST00000391675
  gene symbol: POU5F1B
  hgvsc: ENST00000391675.1:c.175G>C
  hgvsp: ENSP00000375557.1:p.Gly59Arg
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000523825
  gene symbol: CASC8
  hgvsc: ENST00000523825.1:n.546+4788C>G
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000501396
  gene symbol: CASC8
  hgvsc: ENST00000501396.1:n.546+4788C>G
  variant of: http://identifiers.org/hgnc/45129
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15649
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly59Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

8-128428288-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128428288
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 128428288
    reference: chr 8
allele count: 2
allele frequency: 3.069556142181841e-5
allele num: 65156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000375557
  ensembl transcript: ENST00000391675
  gene symbol: POU5F1B
  hgvsc: ENST00000391675.1:c.177G>T
  hgvsp: ENST00000391675.1:c.177G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000502082
  gene symbol: CASC8
  hgvsc: ENST00000502082.1:n.1176+4786C>A
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000501396
  gene symbol: CASC8
  hgvsc: ENST00000501396.1:n.546+4786C>A
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000419298
  ensembl transcript: ENST00000465342
  gene symbol: POU5F1B
  hgvsc: ENST00000465342.2:c.177G>T
  hgvsp: ENST00000465342.2:c.177G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000523825
  gene symbol: CASC8
  hgvsc: ENST00000523825.1:n.546+4786C>A
  variant of: http://identifiers.org/hgnc/45129
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16217
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly59Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/8-128428289-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128428289
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 128428289
    reference: chr 8
allele count: 21
allele frequency: 3.182589718719689e-4
allele num: 65984
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000419298
  ensembl transcript: ENST00000465342
  gene symbol: POU5F1B
  hgvsc: ENST00000465342.2:c.178A>C
  hgvsp: ENSP00000419298.2:p.Ile60Leu
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000501396
  gene symbol: CASC8
  hgvsc: ENST00000501396.1:n.546+4785T>G
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000523825
  gene symbol: CASC8
  hgvsc: ENST00000523825.1:n.546+4785T>G
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000502082
  gene symbol: CASC8
  hgvsc: ENST00000502082.1:n.1176+4785T>G
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000375557
  ensembl transcript: ENST00000391675
  gene symbol: POU5F1B
  hgvsc: ENST00000391675.1:c.178A>C
  hgvsp: ENSP00000375557.1:p.Ile60Leu
  variant of: http://identifiers.org/hgnc/9223
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16427
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile60Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

8-128428291-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128428291
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 128428290
    reference: chr 8
allele count: 1
allele frequency: 1.488671212076101e-5
allele num: 67174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000375557
  ensembl transcript: ENST00000391675
  gene symbol: POU5F1B
  hgvsc: ENST00000391675.1:c.185delC
  hgvsp: ENSP00000375557.1:p.Pro62LeufsTer23
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000523825
  gene symbol: CASC8
  hgvsc: ENST00000523825.1:n.546+4782delG
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000502082
  gene symbol: CASC8
  hgvsc: ENST00000502082.1:n.1176+4782delG
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000419298
  ensembl transcript: ENST00000465342
  gene symbol: POU5F1B
  hgvsc: ENST00000465342.2:c.185delC
  hgvsp: ENSP00000419298.2:p.Pro62LeufsTer23
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000501396
  gene symbol: CASC8
  hgvsc: ENST00000501396.1:n.546+4782delG
  variant of: http://identifiers.org/hgnc/45129
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro62LeufsTer23
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: TC
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

8-128428299-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128428299
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 128428298
    reference: chr 8
allele count: 1
allele frequency: 1.342389991140226e-5
allele num: 74494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000375557
  ensembl transcript: ENST00000391675
  gene symbol: POU5F1B
  hgvsc: ENST00000391675.1:c.194delC
  hgvsp: ENSP00000375557.1:p.Pro65ArgfsTer20
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000501396
  gene symbol: CASC8
  hgvsc: ENST00000501396.1:n.546+4774delG
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000419298
  ensembl transcript: ENST00000465342
  gene symbol: POU5F1B
  hgvsc: ENST00000465342.2:c.194delC
  hgvsp: ENSP00000419298.2:p.Pro65ArgfsTer20
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000523825
  gene symbol: CASC8
  hgvsc: ENST00000523825.1:n.546+4774delG
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000502082
  gene symbol: CASC8
  hgvsc: ENST00000502082.1:n.1176+4774delG
  variant of: http://identifiers.org/hgnc/45129
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro65ArgfsTer20
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: GC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

8-128428311-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128428311
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 128428311
    reference: chr 8
allele count: 2
allele frequency: 2.051324129725738e-5
allele num: 97498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000523825
  gene symbol: CASC8
  hgvsc: ENST00000523825.1:n.546+4763T>C
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000375557
  ensembl transcript: ENST00000391675
  gene symbol: POU5F1B
  hgvsc: ENST00000391675.1:c.200A>G
  hgvsp: ENSP00000375557.1:p.Tyr67Cys
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000419298
  ensembl transcript: ENST00000465342
  gene symbol: POU5F1B
  hgvsc: ENST00000465342.2:c.200A>G
  hgvsp: ENSP00000419298.2:p.Tyr67Cys
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000501396
  gene symbol: CASC8
  hgvsc: ENST00000501396.1:n.546+4763T>C
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000502082
  gene symbol: CASC8
  hgvsc: ENST00000502082.1:n.1176+4763T>C
  variant of: http://identifiers.org/hgnc/45129
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33461
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr67Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

8-128428315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128428315
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 128428315
    reference: chr 8
allele count: 1
allele frequency: 9.941741395422822e-6
allele num: 100586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000375557
  ensembl transcript: ENST00000391675
  gene symbol: POU5F1B
  hgvsc: ENST00000391675.1:c.204G>A
  hgvsp: ENST00000391675.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000419298
  ensembl transcript: ENST00000465342
  gene symbol: POU5F1B
  hgvsc: ENST00000465342.2:c.204G>A
  hgvsp: ENST00000465342.2:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000502082
  gene symbol: CASC8
  hgvsc: ENST00000502082.1:n.1176+4759C>T
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000501396
  gene symbol: CASC8
  hgvsc: ENST00000501396.1:n.546+4759C>T
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000523825
  gene symbol: CASC8
  hgvsc: ENST00000523825.1:n.546+4759C>T
  variant of: http://identifiers.org/hgnc/45129
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35084
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu68Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-128428318-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 128428318
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 128428318
    reference: chr 8
allele count: 2
allele frequency: 1.955034213098729e-5
allele num: 102300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000523825
  gene symbol: CASC8
  hgvsc: ENST00000523825.1:n.546+4756T>G
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000501396
  gene symbol: CASC8
  hgvsc: ENST00000501396.1:n.546+4756T>G
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000375557
  ensembl transcript: ENST00000391675
  gene symbol: POU5F1B
  hgvsc: ENST00000391675.1:c.207A>C
  hgvsp: ENSP00000375557.1:p.Leu69Phe
  variant of: http://identifiers.org/hgnc/9223
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000246228
  ensembl transcript: ENST00000502082
  gene symbol: CASC8
  hgvsc: ENST00000502082.1:n.1176+4756T>G
  variant of: http://identifiers.org/hgnc/45129
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000212993
  ensembl protein: ENSP00000419298
  ensembl transcript: ENST00000465342
  gene symbol: POU5F1B
  hgvsc: ENST00000465342.2:c.207A>C
  hgvsp: ENSP00000419298.2:p.Leu69Phe
  variant of: http://identifiers.org/hgnc/9223
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu69Phe
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-2627453-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627453
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627453
    reference: chr 7
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.941-3C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.989-3C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.410-3C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.794-3C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1123-3C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*766-3C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1092-3C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.836-3C>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: c.989-3C>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

7-2627453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627453
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627453
    reference: chr 7
allele count: 6
allele frequency: 4.970014247374176e-5
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.794-3C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.989-3C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.410-3C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1092-3C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.836-3C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.941-3C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*766-3C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1123-3C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4088
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
hgvs: c.989-3C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

7-2627459-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627459
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627459
    reference: chr 7
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.839A>G
  hgvsp: ENSP00000385945.1:p.Tyr280Cys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1095A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1126A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*769A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.797A>G
  hgvsp: ENSP00000313772.7:p.Tyr266Cys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.413A>G
  hgvsp: ENSP00000415261.1:p.Tyr138Cys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.944A>G
  hgvsp: ENSP00000396178.2:p.Tyr315Cys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.992A>G
  hgvsp: ENSP00000385597.2:p.Tyr331Cys
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr331Cys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ

7-2627473-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627473
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627473
    reference: chr 7
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.427A>T
  hgvsp: ENSP00000415261.1:p.Lys143Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*783A>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.811A>T
  hgvsp: ENSP00000313772.7:p.Lys271Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.958A>T
  hgvsp: ENSP00000396178.2:p.Lys320Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1006A>T
  hgvsp: ENSP00000385597.2:p.Lys336Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.853A>T
  hgvsp: ENSP00000385945.1:p.Lys285Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1109A>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1140A>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25551
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys336Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

7-2627477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627477
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627477
    reference: chr 7
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.815C>T
  hgvsp: ENSP00000313772.7:p.Pro272Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.962C>T
  hgvsp: ENSP00000396178.2:p.Pro321Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*787C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.431C>T
  hgvsp: ENSP00000415261.1:p.Pro144Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1144C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1010C>T
  hgvsp: ENSP00000385597.2:p.Pro337Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.857C>T
  hgvsp: ENSP00000385945.1:p.Pro286Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1113C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25551
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro337Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-2627478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627478
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627478
    reference: chr 7
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1114C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.858C>T
  hgvsp: ENST00000404984.1:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1011C>T
  hgvsp: ENST00000402050.2:c.1011C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.963C>T
  hgvsp: ENST00000438376.2:c.963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.432C>T
  hgvsp: ENST00000427817.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1145C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*788C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.816C>T
  hgvsp: ENST00000325979.7:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro337Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

7-2627479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627479
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627479
    reference: chr 7
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.859C>T
  hgvsp: ENSP00000385945.1:p.Arg287Trp
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1115C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*789C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1146C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.964C>T
  hgvsp: ENSP00000396178.2:p.Arg322Trp
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1012C>T
  hgvsp: ENSP00000385597.2:p.Arg338Trp
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.817C>T
  hgvsp: ENSP00000313772.7:p.Arg273Trp
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.433C>T
  hgvsp: ENSP00000415261.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg338Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

7-2627480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627480
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627480
    reference: chr 7
allele count: 4
allele frequency: 3.313452617627568e-5
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*790G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1116G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.434G>A
  hgvsp: ENSP00000415261.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.818G>A
  hgvsp: ENSP00000313772.7:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.965G>A
  hgvsp: ENSP00000396178.2:p.Arg322Gln
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1013G>A
  hgvsp: ENSP00000385597.2:p.Arg338Gln
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1147G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.860G>A
  hgvsp: ENSP00000385945.1:p.Arg287Gln
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg338Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD

7-2627481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627481
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627481
    reference: chr 7
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1117G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1014G>A
  hgvsp: ENST00000402050.2:c.1014G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1148G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.861G>A
  hgvsp: ENST00000404984.1:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.819G>A
  hgvsp: ENST00000325979.7:c.819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.966G>A
  hgvsp: ENST00000438376.2:c.966G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.435G>A
  hgvsp: ENST00000427817.1:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*791G>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg338Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

7-2627489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627489
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627489
    reference: chr 7
allele count: 65
allele frequency: 5.384628129297348e-4
allele num: 120714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.827G>A
  hgvsp: ENSP00000313772.7:p.Arg276Lys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1022G>A
  hgvsp: ENSP00000385597.2:p.Arg341Lys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*799G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1156G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.869G>A
  hgvsp: ENSP00000385945.1:p.Arg290Lys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.443G>A
  hgvsp: ENSP00000415261.1:p.Arg148Lys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.974G>A
  hgvsp: ENSP00000396178.2:p.Arg325Lys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1125G>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 9.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg341Lys
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

7-2627491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627491
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627491
    reference: chr 7
allele count: 9
allele frequency: 7.455762475975876e-5
allele num: 120712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.829C>T
  hgvsp: ENSP00000313772.7:p.Arg277Cys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.976C>T
  hgvsp: ENSP00000396178.2:p.Arg326Cys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.871C>T
  hgvsp: ENSP00000385945.1:p.Arg291Cys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1024C>T
  hgvsp: ENSP00000385597.2:p.Arg342Cys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1158C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1127C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*801C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.445C>T
  hgvsp: ENSP00000415261.1:p.Arg149Cys
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg342Cys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

7-2627492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627492
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627492
    reference: chr 7
allele count: 2
allele frequency: 1.656836105772417e-5
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1025G>A
  hgvsp: ENSP00000385597.2:p.Arg342His
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.446G>A
  hgvsp: ENSP00000415261.1:p.Arg149His
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.977G>A
  hgvsp: ENSP00000396178.2:p.Arg326His
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.872G>A
  hgvsp: ENSP00000385945.1:p.Arg291His
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1128G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.830G>A
  hgvsp: ENSP00000313772.7:p.Arg277His
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*802G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1159G>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg342His
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-2627492-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627492
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627492
    reference: chr 7
allele count: 21
allele frequency: 1.739677911061038e-4
allele num: 120712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.830G>T
  hgvsp: ENSP00000313772.7:p.Arg277Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.872G>T
  hgvsp: ENSP00000385945.1:p.Arg291Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1128G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*802G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.977G>T
  hgvsp: ENSP00000396178.2:p.Arg326Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.446G>T
  hgvsp: ENSP00000415261.1:p.Arg149Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1025G>T
  hgvsp: ENSP00000385597.2:p.Arg342Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1159G>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25516
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg342Leu
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

7-2627495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627495
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627495
    reference: chr 7
allele count: 6
allele frequency: 4.970673029128144e-5
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.980T>C
  hgvsp: ENSP00000396178.2:p.Ile327Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.833T>C
  hgvsp: ENSP00000313772.7:p.Ile278Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.875T>C
  hgvsp: ENSP00000385945.1:p.Ile292Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1028T>C
  hgvsp: ENSP00000385597.2:p.Ile343Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.449T>C
  hgvsp: ENSP00000415261.1:p.Ile150Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1131T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*805T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1162T>C
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile343Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

7-2627506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627506
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627506
    reference: chr 7
allele count: 5
allele frequency: 4.142639358388016e-5
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1142G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*816G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.460G>A
  hgvsp: ENSP00000415261.1:p.Glu154Lys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.886G>A
  hgvsp: ENSP00000385945.1:p.Glu296Lys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.844G>A
  hgvsp: ENSP00000313772.7:p.Glu282Lys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1173G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.991G>A
  hgvsp: ENSP00000396178.2:p.Glu331Lys
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1039G>A
  hgvsp: ENSP00000385597.2:p.Glu347Lys
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu347Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-2627517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627517
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627517
    reference: chr 7
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+6C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+6C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+6C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+6C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+6C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+6C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+6C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+6C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1044+6C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

7-2627518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627518
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627518
    reference: chr 7
allele count: 2
allele frequency: 1.657467720816137e-5
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+7G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+7G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+7G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+7G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+7G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+7G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+7G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+7G>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1044+7G>A
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

7-2627520-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627520
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627520
    reference: chr 7
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+9G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+9G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+9G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+9G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+9G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+9G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+9G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+9G>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

7-2627522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627522
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627522
    reference: chr 7
allele count: 4
allele frequency: 3.314935441632274e-5
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+11G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+11G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+11G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+11G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+11G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+11G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+11G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+11G>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25483
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

7-2627528-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627528
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627528
    reference: chr 7
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+17G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+17G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+17G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+17G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+17G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+17G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+17G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+17G>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

7-2627534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627534
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627534
    reference: chr 7
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+23C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+23C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+23C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+23C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+23C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+23C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+23C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+23C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25477
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

7-2627538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627538
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627538
    reference: chr 7
allele count: 2
allele frequency: 1.657852417977751e-5
allele num: 120638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+27C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+27C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+27C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+27C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+27C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+27C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+27C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+27C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

7-2627540-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627540
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627540
    reference: chr 7
allele count: 2
allele frequency: 1.657824933687002e-5
allele num: 120640
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+29T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+29T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+29T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+29T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+29T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+29T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+29T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+29T>C
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

7-2627552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627552
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627552
    reference: chr 7
allele count: 1
allele frequency: 8.294212298657997e-6
allele num: 120566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+41G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+41G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+41G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+41G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+41G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+41G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+41G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+41G>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25458
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-2627554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627554
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627554
    reference: chr 7
allele count: 1
allele frequency: 8.297102651754007e-6
allele num: 120524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+43C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+43C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+43C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+43C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+43C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+43C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+43C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+43C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ

7-2627558-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627558
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627558
    reference: chr 7
allele count: 1
allele frequency: 8.303992559622666e-6
allele num: 120424
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+47A>G
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5956
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-2627559-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2627559
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2627559
    reference: chr 7
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1178+48T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*821+48T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1044+48T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.465+48T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.996+48T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.849+48T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.891+48T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1147+48T>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

7-2629492-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629492
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629492
    reference: chr 7
allele count: 1
allele frequency: 8.530094172239662e-6
allele num: 117232
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-49A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-49A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-49A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-49A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-49A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-49A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-49A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-49A>G
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

7-2629494-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629494
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629494
    reference: chr 7
allele count: 1
allele frequency: 8.529948649709128e-6
allele num: 117234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-47A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-47A>G
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

7-2629495-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629495
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629495
    reference: chr 7
allele count: 1
allele frequency: 8.528348229514908e-6
allele num: 117256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-46G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-46G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-46G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-46G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-46G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-46G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-46G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-46G>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

7-2629496-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629496
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629496
    reference: chr 7
allele count: 1
allele frequency: 8.529657619543152e-6
allele num: 117238
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-45T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-45T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-45T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-45T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-45T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-45T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-45T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-45T>C
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

7-2629496-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629496
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629496
    reference: chr 7
allele count: 1
allele frequency: 8.529657619543152e-6
allele num: 117238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-45T>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-45T>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-45T>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-45T>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-45T>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-45T>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-45T>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-45T>G
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

7-2629502-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629502
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629502
    reference: chr 7
allele count: 1
allele frequency: 8.521226374899876e-6
allele num: 117354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-39T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-39T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-39T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-39T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-39T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-39T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-39T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-39T>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-2629503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629503
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629503
    reference: chr 7
allele count: 1
allele frequency: 8.520064752492119e-6
allele num: 117370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-38G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-38G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-38G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-38G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-38G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-38G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-38G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-38G>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

7-2629509-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629509
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629509
    reference: chr 7
allele count: 1
allele frequency: 8.510928031592565e-6
allele num: 117496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-32T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-32T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-32T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-32T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-32T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-32T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-32T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-32T>C
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

7-2629519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629519
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629519
    reference: chr 7
allele count: 1
allele frequency: 8.488531993277082e-6
allele num: 117806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-22C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-22C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-22C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-22C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-22C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-22C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-22C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-22C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

7-2629521-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629521
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629519
    reference: chr 7
allele count: 1
allele frequency: 8.48147645542136e-6
allele num: 117904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-19_466-18delAT
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-19_892-18delAT
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-19_850-18delAT
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-19_997-18delAT
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-19_1045-18delAT
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-19_1148-18delAT
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-19_*822-18delAT
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-19_1179-18delAT
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: CAT
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

7-2629523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629523
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629523
    reference: chr 7
allele count: 28
allele frequency: 2.373082464615645e-4
allele num: 117990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-18T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-18T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-18T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-18T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-18T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-18T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-18T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-18T>C
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

7-2629528-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629528
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629528
    reference: chr 7
allele count: 1
allele frequency: 8.460236886632826e-6
allele num: 118200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-13G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-13G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-13G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-13G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-13G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-13G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-13G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-13G>C
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-2629538-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629538
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629537
    reference: chr 7
allele count: 5
allele frequency: 4.219907837212835e-5
allele num: 118486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-2delA
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-2delA
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-2delA
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-2delA
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-2delA
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-2delA
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-2delA
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-2delA
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.1delA
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1045-2delA
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: CA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

7-2629540-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629540
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629540
    reference: chr 7
allele count: 5
allele frequency: 4.218982044012421e-5
allele num: 118512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1179-1G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*822-1G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.850-1G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1148-1G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.2G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.466-1G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.997-1G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.892-1G>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1045-1G>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1045-1G>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/7-2629546-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629546
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629546
    reference: chr 7
allele count: 1
allele frequency: 8.426445556735258e-6
allele num: 118674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1002A>C
  hgvsp: ENST00000438376.2:c.1002A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1153A>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.8A>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.471A>C
  hgvsp: ENST00000427817.1:c.471A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1050A>C
  hgvsp: ENST00000402050.2:c.1050A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.897A>C
  hgvsp: ENST00000404984.1:c.897A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*827A>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1184A>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.855A>C
  hgvsp: ENST00000325979.7:c.855A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu350Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

7-2629547-AGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629547
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629545
    reference: chr 7
allele count: 1
allele frequency: 8.42516766083645e-6
allele num: 118692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.476_477delTG
  hgvsp: ENSP00000415261.1:p.Val159AspfsTer?
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1055_1056delTG
  hgvsp: ENSP00000385597.2:p.Val352AspfsTer128
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.860_861delTG
  hgvsp: ENSP00000313772.7:p.Val287AspfsTer128
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1007_1008delTG
  hgvsp: ENSP00000396178.2:p.Val336AspfsTer128
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*832_*833delTG
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.902_903delTG
  hgvsp: ENSP00000385945.1:p.Val301AspfsTer128
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1158_1159delTG
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1189_1190delTG
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.13_14delTG
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val352AspfsTer128
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: AGT
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

7-2629548-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629548
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629548
    reference: chr 7
allele count: 1
allele frequency: 8.423038695439767e-6
allele num: 118722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.473G>C
  hgvsp: ENSP00000415261.1:p.Ser158Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1004G>C
  hgvsp: ENSP00000396178.2:p.Ser335Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*829G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.857G>C
  hgvsp: ENSP00000313772.7:p.Ser286Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1052G>C
  hgvsp: ENSP00000385597.2:p.Ser351Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.10G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.899G>C
  hgvsp: ENSP00000385945.1:p.Ser300Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1155G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1186G>C
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40977
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser351Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

7-2629549-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629549
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629549
    reference: chr 7
allele count: 17
allele frequency: 1.431554836971167e-4
allele num: 118752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.858T>C
  hgvsp: ENST00000325979.7:c.858T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.474T>C
  hgvsp: ENST00000427817.1:c.474T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.900T>C
  hgvsp: ENST00000404984.1:c.900T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.11T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*830T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1005T>C
  hgvsp: ENST00000438376.2:c.1005T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1053T>C
  hgvsp: ENST00000402050.2:c.1053T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1156T>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1187T>C
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser351Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

7-2629556-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629556
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629556
    reference: chr 7
allele count: 1
allele frequency: 8.402655239055541e-6
allele num: 119010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1012G>C
  hgvsp: ENSP00000396178.2:p.Glu338Gln
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.907G>C
  hgvsp: ENSP00000385945.1:p.Glu303Gln
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*837G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1060G>C
  hgvsp: ENSP00000385597.2:p.Glu354Gln
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.865G>C
  hgvsp: ENSP00000313772.7:p.Glu289Gln
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.481G>C
  hgvsp: ENSP00000415261.1:p.Glu161Gln
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1194G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.18G>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1163G>C
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu354Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

7-2629562-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629562
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629561
    reference: chr 7
allele count: 1
allele frequency: 8.395882659143956e-6
allele num: 119106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.914delC
  hgvsp: ENSP00000385945.1:p.Ser305Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1067delC
  hgvsp: ENSP00000385597.2:p.Ser356Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.872delC
  hgvsp: ENSP00000313772.7:p.Ser291Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1201delC
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1170delC
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*844delC
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.25delC
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.488delC
  hgvsp: ENSP00000415261.1:p.Ser163Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1019delC
  hgvsp: ENSP00000396178.2:p.Ser340Ter
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser356Ter
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: TC
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-2629564-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629564
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629564
    reference: chr 7
allele count: 3
allele frequency: 2.518215089144814e-5
allele num: 119132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.915A>C
  hgvsp: ENST00000404984.1:c.915A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.489A>C
  hgvsp: ENST00000427817.1:c.489A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.873A>C
  hgvsp: ENST00000325979.7:c.873A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1202A>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1171A>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1020A>C
  hgvsp: ENST00000438376.2:c.1020A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*845A>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1068A>C
  hgvsp: ENST00000402050.2:c.1068A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.26A>C
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser356Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

7-2629568-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629568
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629566
    reference: chr 7
allele count: 1
allele frequency: 8.393063971933595e-6
allele num: 119146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*853_*854delAC
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1076_1077delAC
  hgvsp: ENSP00000385597.2:p.His359ArgfsTer121
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1210_1211delAC
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.34_35delAC
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.923_924delAC
  hgvsp: ENSP00000385945.1:p.His308ArgfsTer121
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.881_882delAC
  hgvsp: ENSP00000313772.7:p.His294ArgfsTer121
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1028_1029delAC
  hgvsp: ENSP00000396178.2:p.His343ArgfsTer121
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1179_1180delAC
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.497_498delAC
  hgvsp: ENSP00000415261.1:p.His166ArgfsTer?
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His359ArgfsTer121
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: TCA
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-2629576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629576
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629576
    reference: chr 7
allele count: 17
allele frequency: 1.425839567886738e-4
allele num: 119228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.927C>T
  hgvsp: ENST00000404984.1:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.501C>T
  hgvsp: ENST00000427817.1:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*857C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1080C>T
  hgvsp: ENST00000402050.2:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.885C>T
  hgvsp: ENST00000325979.7:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.38C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1032C>T
  hgvsp: ENST00000438376.2:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1214C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1183C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala360Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

7-2629577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629577
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629577
    reference: chr 7
allele count: 1
allele frequency: 8.384338056510439e-6
allele num: 119270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.39G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.886G>A
  hgvsp: ENSP00000313772.7:p.Ala296Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1215G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1184G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*858G>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1033G>A
  hgvsp: ENSP00000396178.2:p.Ala345Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1081G>A
  hgvsp: ENSP00000385597.2:p.Ala361Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.928G>A
  hgvsp: ENSP00000385945.1:p.Ala310Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.502G>A
  hgvsp: ENSP00000415261.1:p.Ala168Thr
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala361Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

7-2629579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629579
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629579
    reference: chr 7
allele count: 1
allele frequency: 8.381808123648433e-6
allele num: 119306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1035A>G
  hgvsp: ENST00000438376.2:c.1035A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1186A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.504A>G
  hgvsp: ENST00000427817.1:c.504A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1217A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.888A>G
  hgvsp: ENST00000325979.7:c.888A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*860A>G
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1083A>G
  hgvsp: ENST00000402050.2:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.930A>G
  hgvsp: ENST00000404984.1:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.41A>G
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41070
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala361Ala
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: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

7-2629592-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629592
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629592
    reference: chr 7
allele count: 1
allele frequency: 8.372684952610603e-6
allele num: 119436
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1096T>A
  hgvsp: ENSP00000385597.2:p.Ser366Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1199T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*873T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1230T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.943T>A
  hgvsp: ENSP00000385945.1:p.Ser315Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1048T>A
  hgvsp: ENSP00000396178.2:p.Ser350Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.517T>A
  hgvsp: ENSP00000415261.1:p.Ser173Thr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.54T>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.901T>A
  hgvsp: ENSP00000313772.7:p.Ser301Thr
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser366Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/7-2629593-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629593
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629593
    reference: chr 7
allele count: 1
allele frequency: 8.373526259378349e-6
allele num: 119424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.55C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1097C>A
  hgvsp: ENSP00000385597.2:p.Ser366Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.944C>A
  hgvsp: ENSP00000385945.1:p.Ser315Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.902C>A
  hgvsp: ENSP00000313772.7:p.Ser301Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1231C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1049C>A
  hgvsp: ENSP00000396178.2:p.Ser350Ter
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*874C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1200C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.518C>A
  hgvsp: ENSP00000415261.1:p.Ser173Ter
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser366Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

7-2629593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629593
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629593
    reference: chr 7
allele count: 1
allele frequency: 8.373526259378349e-6
allele num: 119424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*874C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.55C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1200C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.518C>T
  hgvsp: ENSP00000415261.1:p.Ser173Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1097C>T
  hgvsp: ENSP00000385597.2:p.Ser366Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.902C>T
  hgvsp: ENSP00000313772.7:p.Ser301Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1049C>T
  hgvsp: ENSP00000396178.2:p.Ser350Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.944C>T
  hgvsp: ENSP00000385945.1:p.Ser315Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1231C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser366Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

7-2629595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629595
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629595
    reference: chr 7
allele count: 8
allele frequency: 6.698035801001356e-5
allele num: 119438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.57C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.520C>T
  hgvsp: ENSP00000415261.1:p.His174Tyr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1099C>T
  hgvsp: ENSP00000385597.2:p.His367Tyr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.904C>T
  hgvsp: ENSP00000313772.7:p.His302Tyr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1202C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1233C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.946C>T
  hgvsp: ENSP00000385945.1:p.His316Tyr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1051C>T
  hgvsp: ENSP00000396178.2:p.His351Tyr
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*876C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His367Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-2629596-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629596
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629596
    reference: chr 7
allele count: 130
allele frequency: 1.100221736996225e-3
allele num: 118158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.58A>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.947A>C
  hgvsp: ENSP00000385945.1:p.His316Pro
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1052A>C
  hgvsp: ENSP00000396178.2:p.His351Pro
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1234A>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1100A>C
  hgvsp: ENSP00000385597.2:p.His367Pro
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.521A>C
  hgvsp: ENSP00000415261.1:p.His174Pro
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.905A>C
  hgvsp: ENSP00000313772.7:p.His302Pro
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1203A>C
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*877A>C
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 6
hgvs: p.His367Pro
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

7-2629598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629598
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629598
    reference: chr 7
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1102C>T
  hgvsp: ENSP00000385597.2:p.Pro368Ser
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.907C>T
  hgvsp: ENSP00000313772.7:p.Pro303Ser
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1205C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1236C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.60C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.949C>T
  hgvsp: ENSP00000385945.1:p.Pro317Ser
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1054C>T
  hgvsp: ENSP00000396178.2:p.Pro352Ser
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.523C>T
  hgvsp: ENSP00000415261.1:p.Pro175Ser
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*879C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8510
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro368Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

7-2629599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629599
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629599
    reference: chr 7
allele count: 4
allele frequency: 3.344425678500359e-5
allele num: 119602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.950C>T
  hgvsp: ENSP00000385945.1:p.Pro317Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*880C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.908C>T
  hgvsp: ENSP00000313772.7:p.Pro303Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1206C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1055C>T
  hgvsp: ENSP00000396178.2:p.Pro352Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.524C>T
  hgvsp: ENSP00000415261.1:p.Pro175Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1103C>T
  hgvsp: ENSP00000385597.2:p.Pro368Leu
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.61C>T
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1237C>T
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8505
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro368Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/7-2629606-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2629606
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 2629606
    reference: chr 7
allele count: 15
allele frequency: 1.253195648904707e-4
allele num: 119694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000313772
  ensembl transcript: ENST00000325979
  gene symbol: IQCE
  hgvsc: ENST00000325979.7:c.915C>A
  hgvsp: ENST00000325979.7:c.915C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000476665
  gene symbol: IQCE
  hgvsc: ENST00000476665.1:n.1213C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385945
  ensembl transcript: ENST00000404984
  gene symbol: IQCE
  hgvsc: ENST00000404984.1:c.957C>A
  hgvsp: ENST00000404984.1:c.957C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000396178
  ensembl transcript: ENST00000438376
  gene symbol: IQCE
  hgvsc: ENST00000438376.2:c.1062C>A
  hgvsp: ENST00000438376.2:c.1062C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000415261
  ensembl transcript: ENST00000427817
  gene symbol: IQCE
  hgvsc: ENST00000427817.1:c.531C>A
  hgvsp: ENST00000427817.1:c.531C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000314011
  ensembl transcript: ENST00000325997
  gene symbol: IQCE
  hgvsc: ENST00000325997.9:c.*887C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106012
  ensembl protein: ENSP00000385597
  ensembl transcript: ENST00000402050
  gene symbol: IQCE
  hgvsc: ENST00000402050.2:c.1110C>A
  hgvsp: ENST00000402050.2:c.1110C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000470731
  gene symbol: IQCE
  hgvsc: ENST00000470731.1:n.1244C>A
  variant of: http://identifiers.org/hgnc/29171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000106012
  ensembl transcript: ENST00000490913
  gene symbol: IQCE
  hgvsc: ENST00000490913.1:n.68C>A
  variant of: http://identifiers.org/hgnc/29171
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27166
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala370Ala
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 311
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1882
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 293
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 627
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.474400179385604e-5
allele num: 26758
num of homozygotes: 0

African
type: Population
allele count: 93
allele frequency: 2.373660030627871e-2
allele num: 3918
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3846
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.078303425774878e-4
allele num: 4904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.195e1

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.582e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

DP
type: SiteQuality
SIO_000300: 7.58103e5

VQSLOD
type: SiteQuality
SIO_000300: -7.35e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

GenotypeQuality
all individuals: 2826
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 6.854e0

VQSLOD
type: SiteQuality
SIO_000300: -1.699e0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.529e1

DP
type: SiteQuality
SIO_000300: 8.10185e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 192
bin: 8.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 376
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GenotypeQuality
all individuals: 861
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

QD
type: SiteQuality
SIO_000300: 2.317e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.216e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 8.39998e5

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQ
type: SiteQuality
SIO_000300: 5.838e1

GenotypeQuality
all individuals: 803
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.122422915526363e-5
allele num: 10962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32792
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

FS
type: SiteQuality
SIO_000300: 9.173999999999999e0

DP
type: SiteQuality
SIO_000300: 8.45138e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

VQSLOD
type: SiteQuality
SIO_000300: -1.434e0

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.59e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

GenotypeQuality
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 90
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variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.953089653530182e-5
allele num: 33596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.783e1

VQSLOD
type: SiteQuality
SIO_000300: -1.719e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.766e0

FS
type: SiteQuality
SIO_000300: 6.439e0

MQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

DP
type: SiteQuality
SIO_000300: 8.5705e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 6.6e0

GenotypeQuality
all individuals: 2886
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 868
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variant carriers: 0

GenotypeQuality
all individuals: 15464
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

East Asian
type: Population
allele count: 21
allele frequency: 4.230459307010476e-3
allele num: 4964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.752e1

FS
type: SiteQuality
SIO_000300: 3.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

VQSLOD
type: SiteQuality
SIO_000300: -1.199e0

DP
type: SiteQuality
SIO_000300: 8.6288e5

QD
type: SiteQuality
SIO_000300: 1.313e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.880350250590472e-5
allele num: 34718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3972
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 3.233e0

DP
type: SiteQuality
SIO_000300: 8.7609e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 7.05e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.289324394017535e-4
allele num: 7756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11824
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

FS
type: SiteQuality
SIO_000300: 3.161e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.53214e5

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.832e1

QD
type: SiteQuality
SIO_000300: 1.326e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.899912604020215e-5
allele num: 52634
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.27802037845706e-5
allele num: 13740
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6926
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 1.184329e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.689e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7182
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.834458467860288e-5
allele num: 54512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.188e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10626
num of homozygotes: 0

African
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Other
type: Population
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East Asian
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allele count: 2
allele frequency: 2.544529262086514e-4
allele num: 7860
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: 0.0e0
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

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

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

Latino
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African
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allele frequency: 0.0e0
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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MQ
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MQRankSum
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DP
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GenotypeQuality
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variant carriers: 6

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 8.995502248875562e-5
allele num: 66700
num of homozygotes: 0

InbreedingCoeff
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DP
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MQ
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MQRankSum
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FS
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QD
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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European (Finnish)
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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: 1.159285879897983e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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QD
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MQRankSum
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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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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 num: 8626
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

African
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Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 9.081e0

MQ
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
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Latino
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allele num: 11572
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
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DP
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BaseQRankSum
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FS
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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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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GenotypeQuality
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variant carriers: 0

Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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Other
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allele num: 900
num of homozygotes: 0

East Asian
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VQSLOD
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FS
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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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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Latino
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num of homozygotes: 0

African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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East Asian
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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MQ
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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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European (Non-Finnish)
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Other
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African
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Latino
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European (Finnish)
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East Asian
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South Asian
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MQRankSum
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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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
all individuals: 6
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
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: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
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allele count: 64
allele frequency: 7.41942963134709e-3
allele num: 8626
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

FS
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.091e0

DP
type: SiteQuality
SIO_000300: 3.19569e6

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-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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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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bin: 9.75e1
variant carriers: 9

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
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: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.18919e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

QD
type: SiteQuality
SIO_000300: 1.005e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

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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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 3.189318e6

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.249280230326296e-4
allele num: 66688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.189318e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.262e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

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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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.997660608241857e-5
allele num: 66684
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

DP
type: SiteQuality
SIO_000300: 3.187465e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

QD
type: SiteQuality
SIO_000300: 1.465e1

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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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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 3.186503e6

FS
type: SiteQuality
SIO_000300: 5.56e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.613e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.708e0

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.185419e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-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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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3734
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

FS
type: SiteQuality
SIO_000300: 6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

QD
type: SiteQuality
SIO_000300: 1.394e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 3.184515e6

GenotypeQuality
all individuals: 6435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3489
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1924
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.897e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.68e-1

DP
type: SiteQuality
SIO_000300: 3.183318e6

QD
type: SiteQuality
SIO_000300: 1.253e1

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.041e1

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 3.181662e6

FS
type: SiteQuality
SIO_000300: 6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.518e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

GenotypeQuality
all individuals: 25474
bin: 9.75e1
variant carriers: 2

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

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

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
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.041649652919559e-4
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.157e0

QD
type: SiteQuality
SIO_000300: 1.406e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 6.02e1

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

DP
type: SiteQuality
SIO_000300: 3.179802e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12221
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variant carriers: 0

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

GenotypeQuality
all individuals: 6378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1923
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25472
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001380635092142e-5
allele num: 66636
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

MQ
type: SiteQuality
SIO_000300: 6.008e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 3.1791e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.55e0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.742e1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 3479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3699
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 3.169351e6

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 1.45e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.649e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
all individuals: 11094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 3696
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 212
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25456
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4011
bin: 7.75e1
variant carriers: 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: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

QD
type: SiteQuality
SIO_000300: 1.649e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.046e0

VQSLOD
type: SiteQuality
SIO_000300: -1.529e0

DP
type: SiteQuality
SIO_000300: 3.166853e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.852e1

GenotypeQuality
all individuals: 503
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
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: 8618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.621e-1

DP
type: SiteQuality
SIO_000300: 3.163058e6

QD
type: SiteQuality
SIO_000300: 1.391e1

MQ
type: SiteQuality
SIO_000300: 5.832e1

MQRankSum
type: SiteQuality
SIO_000300: -1.648e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

FS
type: SiteQuality
SIO_000300: 6.752e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25448
bin: 9.75e1
variant carriers: 1

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: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.645e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.856e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 3.162064e6

QD
type: SiteQuality
SIO_000300: 1.553e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 321
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 4351
bin: 9.75e1
variant carriers: 1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
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: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64362
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
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FS
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SIO_000300: 1.646e0

VQSLOD
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
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SIO_000300: 1.7e-3

MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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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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variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5535669898086e-5
allele num: 64368
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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DP
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QD
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VQSLOD
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SIO_000300: 1.21e-1

BaseQRankSum
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SIO_000300: 2.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-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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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9088
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64372
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

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

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

ReadPosRankSum
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SIO_000300: -4.08e-1

QD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 5.686e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

MQRankSum
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SIO_000300: -1.269e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.106e0

VQSLOD
type: SiteQuality
SIO_000300: -8.745000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.553663538624075e-5
allele num: 64364
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9080
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.748472e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
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bin: 2.25e1
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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16274
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.101321585903084e-4
allele num: 9080
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64364
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.297e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

DP
type: SiteQuality
SIO_000300: 1.748472e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551975665021572e-5
allele num: 64434
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.027e0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.899e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64436
num of homozygotes: 0

African
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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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South Asian
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allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
num of homozygotes: 0

MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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QD
type: SiteQuality
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VQSLOD
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DP
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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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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.550291454793501e-5
allele num: 64504
num of homozygotes: 0

African
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East Asian
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InbreedingCoeff
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
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allele num: 872
num of homozygotes: 0

Latino
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num of homozygotes: 0

DP
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
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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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Other
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African
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544496957340994e-5
allele num: 64746
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.453e1

FS
type: SiteQuality
SIO_000300: 9.597e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.047e1

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 1.771743e6

GenotypeQuality
all individuals: 241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 27

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 384
bin: 8.75e1
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: 8542
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.1441647597254e-3
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 27
allele frequency: 4.16653806981266e-4
allele num: 64802
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.773687e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

QD
type: SiteQuality
SIO_000300: 1.447e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.775315e6

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.83e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

MQ
type: SiteQuality
SIO_000300: 5.918e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.825e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
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: 9332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.678368500261065e-5
allele num: 65118
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

FS
type: SiteQuality
SIO_000300: 6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
SIO_000300: 1.778859e6

QD
type: SiteQuality
SIO_000300: 1.525e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4324
bin: 9.75e1
variant carriers: 5

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: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.141751627564181e-5
allele num: 65128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 1.394e0

DP
type: SiteQuality
SIO_000300: 1.779596e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.728e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533083951677194e-5
allele num: 65228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

MQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

QD
type: SiteQuality
SIO_000300: 1.615e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 3.893e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.224e0

DP
type: SiteQuality
SIO_000300: 1.78084e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.82e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53261402648357e-5
allele num: 65248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
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
allele num: 9374
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 882
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.762e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.046e1

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 1.781133e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532097441397273e-5
allele num: 65270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

FS
type: SiteQuality
SIO_000300: 2.944e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.975e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531768886710373e-5
allele num: 65284
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 count: 15
allele frequency: 1.752336448598131e-3
allele num: 8560
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.064509261230573e-4
allele num: 9394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

Other
type: Population
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allele num: 882
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.937e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.527417137620284e-5
allele num: 65470
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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QD
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VQSLOD
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DP
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 3.3e-3

BaseQRankSum
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SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 8.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-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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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: 16476
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.954e0

ClippingRankSum
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SIO_000300: 1.35e-1

DP
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QD
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MQRankSum
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MQ
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SIO_000300: 6.042e1

BaseQRankSum
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SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

InbreedingCoeff
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SIO_000300: 3.9e-3

ReadPosRankSum
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SIO_000300: -2.44e-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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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: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65544
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 1.820388349514563e-4
allele num: 16480
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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BaseQRankSum
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SIO_000300: -7.7e-2

DP
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SIO_000300: 1.785131e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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FS
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SIO_000300: 2.068e0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.525599560627327e-5
allele num: 65548
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

QD
type: SiteQuality
SIO_000300: 1.767e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
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SIO_000300: 2.1e-3

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.058e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.437e0

DP
type: SiteQuality
SIO_000300: 1.784896e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 17

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 1
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allele num: 16486
num of homozygotes: 0

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

African
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allele count: 6
allele frequency: 6.310475389145982e-4
allele num: 9508
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8576
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European (Non-Finnish)
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allele count: 9
allele frequency: 1.371825747645033e-4
allele num: 65606
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
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SIO_000300: 8.19e-1

MQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.21e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 1.786288e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65636
num of homozygotes: 0

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

Other
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East Asian
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South Asian
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num of homozygotes: 0

African
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allele frequency: 1.050199537912203e-4
allele num: 9522
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ClippingRankSum
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MQ
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
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Latino
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allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

Other
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South Asian
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 1.047120418848168e-4
allele num: 9550
num of homozygotes: 0

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

Other
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East Asian
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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MQ
type: SiteQuality
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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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
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520912547528517e-5
allele num: 65750
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: 11556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.337e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.163e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

FS
type: SiteQuality
SIO_000300: 3.892e0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

DP
type: SiteQuality
SIO_000300: 1.78657e6

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

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4295
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 628
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
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: 8574
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: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520912547528517e-5
allele num: 65750
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.337e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 3.892e0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

DP
type: SiteQuality
SIO_000300: 1.78657e6

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4303
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40890
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.244482173174873e-4
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.046243984097091e-4
allele num: 9558
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: 11556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.787126e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.229e0

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

GenotypeQuality
all individuals: 8174
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 157
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 245
bin: 3.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1671
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 882
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 40719
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 300
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1542
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 547
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 451
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 236
bin: 7.5e0
variant carriers: 6

GenotypeQuality
all individuals: 3054
bin: 9.75e1
variant carriers: 43

GenotypeQuality
all individuals: 783
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 241
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.309468822170901e-3
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.702562896778745e-4
allele num: 8506
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.034717164360282e-4
allele num: 16476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 97
allele frequency: 1.611831173147225e-2
allele num: 6018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.368756316418093e-4
allele num: 65306
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.60239e2

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.193e0

DP
type: SiteQuality
SIO_000300: 1.799486e6

QD
type: SiteQuality
SIO_000300: 6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.171e2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1617
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3062
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42324
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518187890933382e-5
allele num: 65868
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.452e0

VQSLOD
type: SiteQuality
SIO_000300: -4.985e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

DP
type: SiteQuality
SIO_000300: 1.752831e6

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
SIO_000300: 7.88e0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3065
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 100
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 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: 65868
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

FS
type: SiteQuality
SIO_000300: 5.125e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.135e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.753157e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
all individuals: 166
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0