16-20792502-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20792502
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20792502
    reference: chr 16
allele count: 1
allele frequency: 8.487379267029927e-6
allele num: 117822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.915+50T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.328+50T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.925+50T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.939+50T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.939+50T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-446A>G
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

16-20792504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20792504
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20792504
    reference: chr 16
allele count: 1
allele frequency: 8.498487269266071e-6
allele num: 117668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.939+52G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.925+52G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.939+52G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.915+52G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.328+52G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-448C>T
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

16-20792981-C-CTTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20792981
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20792984
    reference: chr 16
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: CTTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.916-46_916-44dupATT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-928_895-926dupTAA
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.940-46_940-44dupATT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.926-46_926-44dupATT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.329-46_329-44dupATT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.940-46_940-44dupATT
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12047
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11468
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 21450
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 560
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

16-20792983-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20792983
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20792984
    reference: chr 16
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.926-46dupA
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.940-46dupA
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-928dupT
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.329-46dupA
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.940-46dupA
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.916-46dupA
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

16-20792985-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20792985
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20792985
    reference: chr 16
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.329-45T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.926-45T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.940-45T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.940-45T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-929A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.916-45T>C
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

16-20792994-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20792994
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20792994
    reference: chr 16
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.926-36T>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.940-36T>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.329-36T>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-938A>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.940-36T>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.916-36T>A
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/16-20793004-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793004
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793004
    reference: chr 16
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.940-26A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.926-26A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.329-26A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.940-26A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.916-26A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-948T>G
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

16-20793014-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793014
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793014
    reference: chr 16
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.940-16T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.329-16T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.926-16T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-958A>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.940-16T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.916-16T>G
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

16-20793019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793019
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793019
    reference: chr 16
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.940-11C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-963G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.926-11C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.329-11C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.940-11C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.916-11C>T
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11484
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8721
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

16-20793041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793041
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793041
    reference: chr 16
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.927G>A
  hgvsp: ENST00000450120.2:c.927G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.951G>A
  hgvsp: ENST00000289416.5:c.951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.951G>A
  hgvsp: ENST00000440284.2:c.951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.340G>A
  hgvsp: ENST00000563914.1:c.340G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.937G>A
  hgvsp: ENST00000562251.1:c.937G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-985C>T
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12550
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11489
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys317Lys
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

16-20793044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793044
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793044
    reference: chr 16
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.954C>T
  hgvsp: ENST00000289416.5:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.343C>T
  hgvsp: ENST00000563914.1:c.343C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-988G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.940C>T
  hgvsp: ENST00000562251.1:c.940C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.930C>T
  hgvsp: ENST00000450120.2:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.954C>T
  hgvsp: ENST00000440284.2:c.954C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr318Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

16-20793045-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793045
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793045
    reference: chr 16
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.941C>G
  hgvsp: ENSP00000456767.1:p.Pro315Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.344C>G
  hgvsp: ENSP00000457926.1:p.Pro116Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-989G>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.931C>G
  hgvsp: ENSP00000395297.2:p.Pro311Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.955C>G
  hgvsp: ENSP00000394565.2:p.Pro319Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.955C>G
  hgvsp: ENSP00000289416.5:p.Pro319Ala
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro319Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-20793046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793046
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793046
    reference: chr 16
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.956C>T
  hgvsp: ENSP00000394565.2:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.956C>T
  hgvsp: ENSP00000289416.5:p.Pro319Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.932C>T
  hgvsp: ENSP00000395297.2:p.Pro311Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.942C>T
  hgvsp: ENSP00000456767.1:p.Pro315Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.345C>T
  hgvsp: ENSP00000457926.1:p.Pro116Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-990G>A
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro319Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

16-20793051-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793051
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793051
    reference: chr 16
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.961A>G
  hgvsp: ENSP00000394565.2:p.Thr321Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.937A>G
  hgvsp: ENSP00000395297.2:p.Thr313Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.961A>G
  hgvsp: ENSP00000289416.5:p.Thr321Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-995T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.350A>G
  hgvsp: ENSP00000457926.1:p.Thr118Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.947A>G
  hgvsp: ENSP00000456767.1:p.Thr317Ala
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr321Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

16-20793052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793052
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793052
    reference: chr 16
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.948C>T
  hgvsp: ENSP00000456767.1:p.Thr317Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.962C>T
  hgvsp: ENSP00000289416.5:p.Thr321Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.351C>T
  hgvsp: ENSP00000457926.1:p.Thr118Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.962C>T
  hgvsp: ENSP00000394565.2:p.Thr321Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.938C>T
  hgvsp: ENSP00000395297.2:p.Thr313Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-996G>A
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28261
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11487
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr321Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

16-20793054-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793054
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793054
    reference: chr 16
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.353G>T
  hgvsp: ENSP00000457926.1:p.Val119Phe
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.940G>T
  hgvsp: ENSP00000395297.2:p.Val314Phe
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-998C>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.964G>T
  hgvsp: ENSP00000289416.5:p.Val322Phe
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.964G>T
  hgvsp: ENSP00000394565.2:p.Val322Phe
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.950G>T
  hgvsp: ENSP00000456767.1:p.Val318Phe
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val322Phe
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-20793065-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793065
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793065
    reference: chr 16
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.975A>C
  hgvsp: ENST00000289416.5:c.975A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.961A>C
  hgvsp: ENST00000562251.1:c.961A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.364A>C
  hgvsp: ENST00000563914.1:c.364A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.975A>C
  hgvsp: ENST00000440284.2:c.975A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.951A>C
  hgvsp: ENST00000450120.2:c.951A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-1009T>G
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11487
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser325Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS

16-20793077-ATACCGAATGCTTGTACAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793077
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793059
    reference: chr 16
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsp: ENSP00000289416.5:p.Tyr330_Gln335del
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsp: ENSP00000457926.1:p.Tyr127_Gln132del
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsp: ENSP00000456767.1:p.Tyr326_Gln331del
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsp: ENSP00000394565.2:p.Tyr330_Gln335del
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsp: ENSP00000395297.2:p.Tyr322_Gln327del
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11487
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr330_Gln335del
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: ATACCGAATGCTTGTACAG
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

16-20793080-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793080
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793080
    reference: chr 16
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.966C>T
  hgvsp: ENST00000450120.2:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.990C>T
  hgvsp: ENST00000440284.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.976C>T
  hgvsp: ENST00000562251.1:c.976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.379C>T
  hgvsp: ENST00000563914.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-1024G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.990C>T
  hgvsp: ENST00000289416.5:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr330Tyr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

16-20793081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793081
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793081
    reference: chr 16
allele count: 23
allele frequency: 1.896469268952324e-4
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.967C>T
  hgvsp: ENSP00000395297.2:p.Arg323Ter
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.380C>T
  hgvsp: ENSP00000457926.1:p.Arg128Ter
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.977C>T
  hgvsp: ENSP00000456767.1:p.Arg327Ter
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.991C>T
  hgvsp: ENSP00000289416.5:p.Arg331Ter
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.991C>T
  hgvsp: ENSP00000394565.2:p.Arg331Ter
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-1025G>A
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17370
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8752
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg331Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

16-20793082-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793082
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793082
    reference: chr 16
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.381G>C
  hgvsp: ENSP00000457926.1:p.Arg128Pro
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.992G>C
  hgvsp: ENSP00000394565.2:p.Arg331Pro
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.978G>C
  hgvsp: ENSP00000456767.1:p.Arg327Pro
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-1026C>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.968G>C
  hgvsp: ENSP00000395297.2:p.Arg323Pro
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.992G>C
  hgvsp: ENSP00000289416.5:p.Arg331Pro
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg331Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-20793084-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793084
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793084
    reference: chr 16
allele count: 72
allele frequency: 5.93657756303491e-4
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.980A>G
  hgvsp: ENSP00000456767.1:p.Met328Val
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.383A>G
  hgvsp: ENSP00000457926.1:p.Met129Val
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.994A>G
  hgvsp: ENSP00000394565.2:p.Met332Val
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-1028T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.994A>G
  hgvsp: ENSP00000289416.5:p.Met332Val
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.970A>G
  hgvsp: ENSP00000395297.2:p.Met324Val
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12554
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met332Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

16-20793106-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793106
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793106
    reference: chr 16
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1002C>T
  hgvsp: ENSP00000456767.1:p.Thr335Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.992C>T
  hgvsp: ENSP00000395297.2:p.Thr331Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-1050G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.405C>T
  hgvsp: ENSP00000457926.1:p.Thr136Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1016C>T
  hgvsp: ENSP00000394565.2:p.Thr339Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1016C>T
  hgvsp: ENSP00000289416.5:p.Thr339Ile
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr339Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

16-20793125-A-ACTACT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793125
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793130
    reference: chr 16
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: ACTACT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1019+16_1019+17insCTACT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.995+16_995+17insCTACT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.408+16_408+17insCTACT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1005+16_1005+17insCTACT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1019+16_1019+17insCTACT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-1070_895-1069insAGTAG
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-20793129-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793129
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793129
    reference: chr 16
allele count: 18320
allele frequency: 1.516430759043126e-1
allele num: 120810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-1073T>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.995+20A>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1019+20A>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1005+20A>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.408+20A>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1019+20A>T
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14939
  bin: 2.75e1
  variant carriers: 1090
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 4.25e1
  variant carriers: 2135
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 6.25e1
  variant carriers: 896
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 9.75e1
  variant carriers: 1041
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 4.75e1
  variant carriers: 1817
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.25e1
  variant carriers: 550
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 380
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 5.25e1
  variant carriers: 1592
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 466
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 2.25e1
  variant carriers: 505
genotype depth: GenotypeDepth
  all individuals: 11437
  bin: 3.25e1
  variant carriers: 1598
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.75e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 6.75e1
  variant carriers: 662
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.25e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.75e1
  variant carriers: 1314
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 3.75e1
  variant carriers: 2019
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 7.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 20977
  bin: 9.75e1
  variant carriers: 16467
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 3
num of homozygotes: 1529
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

16-20793132-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793132
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793132
    reference: chr 16
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.408+23C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1005+23C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-1076G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1019+23C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1019+23C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.995+23C>T
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/16-20793146-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20793146
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20793146
    reference: chr 16
allele count: 11
allele frequency: 9.157356687367842e-5
allele num: 120122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1005+37A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-1090T>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1019+37A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.995+37A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.408+37A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1019+37A>C
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12250
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13779
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6388
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP

16-20796265-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796265
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796266
    reference: chr 16
allele count: 10
allele frequency: 8.329862557267805e-5
allele num: 120050
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1006-36dupT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1020-36dupT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.329-36dupT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.996-36dupT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.409-36dupT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4210dupA
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1020-36dupT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.82-36dupT
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5063
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

16-20796274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796274
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796274
    reference: chr 16
allele count: 2
allele frequency: 1.664391997603276e-5
allele num: 120164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.82-32C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4218G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1020-32C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1020-32C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1006-32C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.409-32C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.996-32C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.329-32C>T
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

16-20796285-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796285
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796284
    reference: chr 16
allele count: 1
allele frequency: 8.308960382876895e-6
allele num: 120352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.996-19delT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1020-19delT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1006-19delT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1020-19delT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.409-19delT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.82-19delT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4230delA
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.329-19delT
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8929
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: CT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-20796289-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796289
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796289
    reference: chr 16
allele count: 139
allele frequency: 1.153737611846146e-3
allele num: 120478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.996-17T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.409-17T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.329-17T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.82-17T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1020-17T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1020-17T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4233A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1006-17T>C
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10723
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11850
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12083
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

16-20796308-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796308
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796308
    reference: chr 16
allele count: 2
allele frequency: 1.653821982601793e-5
allele num: 120932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4252T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.331A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.84A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1008A>G
  hgvsp: ENSP00000456767.1:p.Tyr337Cys
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.998A>G
  hgvsp: ENSP00000395297.2:p.Tyr333Cys
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.411A>G
  hgvsp: ENSP00000457926.1:p.Tyr138Cys
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1022A>G
  hgvsp: ENSP00000394565.2:p.Tyr341Cys
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1022A>G
  hgvsp: ENSP00000289416.5:p.Tyr341Cys
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22181
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr341Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-20796309-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796309
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796309
    reference: chr 16
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.85T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1023T>C
  hgvsp: ENST00000440284.2:c.1023T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1023T>C
  hgvsp: ENST00000289416.5:c.1023T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4253A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.999T>C
  hgvsp: ENST00000450120.2:c.999T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1009T>C
  hgvsp: ENST00000562251.1:c.1009T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.412T>C
  hgvsp: ENST00000563914.1:c.412T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.332T>C
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr341Tyr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

16-20796315-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796315
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796315
    reference: chr 16
allele count: 2
allele frequency: 1.652346331791144e-5
allele num: 121040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.91T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1029T>G
  hgvsp: ENSP00000394565.2:p.Phe343Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.418T>G
  hgvsp: ENSP00000457926.1:p.Phe140Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1005T>G
  hgvsp: ENSP00000395297.2:p.Phe335Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.338T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1015T>G
  hgvsp: ENSP00000456767.1:p.Phe339Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1029T>G
  hgvsp: ENSP00000289416.5:p.Phe343Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4259A>C
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe343Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

16-20796322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796322
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796322
    reference: chr 16
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1036T>C
  hgvsp: ENST00000440284.2:c.1036T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1012T>C
  hgvsp: ENST00000450120.2:c.1012T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1022T>C
  hgvsp: ENST00000562251.1:c.1022T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.345T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4266A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.98T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1036T>C
  hgvsp: ENST00000289416.5:c.1036T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.425T>C
  hgvsp: ENST00000563914.1:c.425T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4379
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu346Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

16-20796336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796336
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796336
    reference: chr 16
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1050G>A
  hgvsp: ENST00000289416.5:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1026G>A
  hgvsp: ENST00000450120.2:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1036G>A
  hgvsp: ENST00000562251.1:c.1036G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.112G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.439G>A
  hgvsp: ENST00000563914.1:c.439G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.359G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1050G>A
  hgvsp: ENST00000440284.2:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4280C>T
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22184
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val350Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

16-20796338-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796338
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796338
    reference: chr 16
allele count: 137
allele frequency: 1.129412540601144e-3
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.361G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.114G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4282C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1038G>A
  hgvsp: ENSP00000456767.1:p.Ser347Asn
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1052G>A
  hgvsp: ENSP00000289416.5:p.Ser351Asn
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1028G>A
  hgvsp: ENSP00000395297.2:p.Ser343Asn
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1052G>A
  hgvsp: ENSP00000394565.2:p.Ser351Asn
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.441G>A
  hgvsp: ENSP00000457926.1:p.Ser148Asn
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 5801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser351Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

16-20796342-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796342
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796342
    reference: chr 16
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.445T>C
  hgvsp: ENST00000563914.1:c.445T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4286A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1042T>C
  hgvsp: ENST00000562251.1:c.1042T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1056T>C
  hgvsp: ENST00000289416.5:c.1056T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1056T>C
  hgvsp: ENST00000440284.2:c.1056T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1032T>C
  hgvsp: ENST00000450120.2:c.1032T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.365T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.118T>C
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala352Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

16-20796352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796352
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796352
    reference: chr 16
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1052A>G
  hgvsp: ENSP00000456767.1:p.Ile352Val
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.375A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1042A>G
  hgvsp: ENSP00000395297.2:p.Ile348Val
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1066A>G
  hgvsp: ENSP00000394565.2:p.Ile356Val
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4296T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1066A>G
  hgvsp: ENSP00000289416.5:p.Ile356Val
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.455A>G
  hgvsp: ENSP00000457926.1:p.Ile153Val
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.128A>G
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile356Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

16-20796355-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796355
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796355
    reference: chr 16
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.131A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1045A>G
  hgvsp: ENSP00000395297.2:p.Thr349Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4299T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.458A>G
  hgvsp: ENSP00000457926.1:p.Thr154Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.378A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1069A>G
  hgvsp: ENSP00000394565.2:p.Thr357Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1069A>G
  hgvsp: ENSP00000289416.5:p.Thr357Ala
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1055A>G
  hgvsp: ENSP00000456767.1:p.Thr353Ala
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22243
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr357Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

16-20796356-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796356
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796356
    reference: chr 16
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1056C>T
  hgvsp: ENSP00000456767.1:p.Thr353Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.132C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.379C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1046C>T
  hgvsp: ENSP00000395297.2:p.Thr349Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1070C>T
  hgvsp: ENSP00000394565.2:p.Thr357Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.459C>T
  hgvsp: ENSP00000457926.1:p.Thr154Ile
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4300G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1070C>T
  hgvsp: ENSP00000289416.5:p.Thr357Ile
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr357Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

16-20796358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796358
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796358
    reference: chr 16
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.381C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1058C>T
  hgvsp: ENSP00000456767.1:p.Pro354Ser
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4302G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1072C>T
  hgvsp: ENSP00000289416.5:p.Pro358Ser
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1048C>T
  hgvsp: ENSP00000395297.2:p.Pro350Ser
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.134C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1072C>T
  hgvsp: ENSP00000394565.2:p.Pro358Ser
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.461C>T
  hgvsp: ENSP00000457926.1:p.Pro155Ser
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro358Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

16-20796359-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796359
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796359
    reference: chr 16
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.462C>T
  hgvsp: ENSP00000457926.1:p.Pro155Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1073C>T
  hgvsp: ENSP00000394565.2:p.Pro358Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1059C>T
  hgvsp: ENSP00000456767.1:p.Pro354Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1049C>T
  hgvsp: ENSP00000395297.2:p.Pro350Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1073C>T
  hgvsp: ENSP00000289416.5:p.Pro358Leu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.382C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.135C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4303G>A
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22247
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5240
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro358Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

16-20796363-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796363
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796363
    reference: chr 16
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.466C>G
  hgvsp: ENSP00000457926.1:p.Asp156Glu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.139C>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1077C>G
  hgvsp: ENSP00000289416.5:p.Asp359Glu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1077C>G
  hgvsp: ENSP00000394565.2:p.Asp359Glu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1063C>G
  hgvsp: ENSP00000456767.1:p.Asp355Glu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4307G>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1053C>G
  hgvsp: ENSP00000395297.2:p.Asp351Glu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.386C>G
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp359Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

16-20796363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796363
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796363
    reference: chr 16
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.386C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1077C>T
  hgvsp: ENST00000440284.2:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4307G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.466C>T
  hgvsp: ENST00000563914.1:c.466C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.139C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1063C>T
  hgvsp: ENST00000562251.1:c.1063C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1077C>T
  hgvsp: ENST00000289416.5:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1053C>T
  hgvsp: ENST00000450120.2:c.1053C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3273
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp359Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

16-20796364-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796364
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796364
    reference: chr 16
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1064G>A
  hgvsp: ENSP00000456767.1:p.Val356Met
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1054G>A
  hgvsp: ENSP00000395297.2:p.Val352Met
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.387G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.467G>A
  hgvsp: ENSP00000457926.1:p.Val157Met
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.140G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1078G>A
  hgvsp: ENSP00000289416.5:p.Val360Met
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1078G>A
  hgvsp: ENSP00000394565.2:p.Val360Met
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4308C>T
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val360Met
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

16-20796369-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796369
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796369
    reference: chr 16
allele count: 7
allele frequency: 5.768248265405343e-5
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1083T>C
  hgvsp: ENST00000440284.2:c.1083T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1059T>C
  hgvsp: ENST00000450120.2:c.1059T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1069T>C
  hgvsp: ENST00000562251.1:c.1069T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.472T>C
  hgvsp: ENST00000563914.1:c.472T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1083T>C
  hgvsp: ENST00000289416.5:c.1083T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.145T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4313A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.392T>C
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr361Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

16-20796372-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796372
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796372
    reference: chr 16
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.1A>G
  hgvsp: ENST00000569141.1:c.1A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1086A>G
  hgvsp: ENST00000440284.2:c.1086A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.148A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1062A>G
  hgvsp: ENST00000450120.2:c.1062A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.475A>G
  hgvsp: ENST00000563914.1:c.475A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4316T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1086A>G
  hgvsp: ENST00000289416.5:c.1086A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.395A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1072A>G
  hgvsp: ENST00000562251.1:c.1072A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu362Glu
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: A
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

16-20796385-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796385
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796385
    reference: chr 16
allele count: 27
allele frequency: 2.224749097740644e-4
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.488A>G
  hgvsp: ENSP00000457926.1:p.Lys164Glu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1099A>G
  hgvsp: ENSP00000289416.5:p.Lys367Glu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1085A>G
  hgvsp: ENSP00000456767.1:p.Lys363Glu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1099A>G
  hgvsp: ENSP00000394565.2:p.Lys367Glu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4329T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1075A>G
  hgvsp: ENSP00000395297.2:p.Lys359Glu
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.408A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.161A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.14A>G
  hgvsp: ENSP00000457608.1:p.Lys6Glu
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22268
  bin: 9.75e1
  variant carriers: 26
hgvs: p.Lys367Glu
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

16-20796387-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796387
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796387
    reference: chr 16
allele count: 11313
allele frequency: 9.322620519159457e-2
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.16G>C
  hgvsp: ENSP00000457608.1:p.Lys6Asn
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1101G>C
  hgvsp: ENSP00000394565.2:p.Lys367Asn
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.490G>C
  hgvsp: ENSP00000457926.1:p.Lys164Asn
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.163G>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4331C>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1087G>C
  hgvsp: ENSP00000456767.1:p.Lys363Asn
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1101G>C
  hgvsp: ENSP00000289416.5:p.Lys367Asn
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1077G>C
  hgvsp: ENSP00000395297.2:p.Lys359Asn
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.410G>C
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 395
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 6.75e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.25e1
  variant carriers: 605
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 4.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 8831
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 3.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 555
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.25e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 5.75e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 9.75e1
  variant carriers: 6686
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10083
  bin: 2.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 3.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 5.25e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 8.75e1
  variant carriers: 579
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.75e1
  variant carriers: 507
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 4.25e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28794
  bin: 9.75e1
  variant carriers: 10624
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys367Asn
num of homozygotes: 671
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

16-20796390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796390
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796390
    reference: chr 16
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1104G>A
  hgvsp: ENST00000289416.5:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1090G>A
  hgvsp: ENST00000562251.1:c.1090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4334C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.19G>A
  hgvsp: ENST00000569141.1:c.19G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1080G>A
  hgvsp: ENST00000450120.2:c.1080G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.413G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1104G>A
  hgvsp: ENST00000440284.2:c.1104G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.493G>A
  hgvsp: ENST00000563914.1:c.493G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.166G>A
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr368Thr
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: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-20796395-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796395
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796395
    reference: chr 16
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1109T>C
  hgvsp: ENSP00000394565.2:p.Leu370Pro
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1109T>C
  hgvsp: ENSP00000289416.5:p.Leu370Pro
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.171T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1095T>C
  hgvsp: ENSP00000456767.1:p.Leu366Pro
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4339A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.24T>C
  hgvsp: ENSP00000457608.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.498T>C
  hgvsp: ENSP00000457926.1:p.Leu167Pro
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1085T>C
  hgvsp: ENSP00000395297.2:p.Leu362Pro
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.418T>C
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu370Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

16-20796405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796405
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796405
    reference: chr 16
allele count: 10
allele frequency: 8.240083060037245e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1105C>T
  hgvsp: ENST00000562251.1:c.1105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.181C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.428C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1095C>T
  hgvsp: ENST00000450120.2:c.1095C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1119C>T
  hgvsp: ENST00000440284.2:c.1119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4349G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.508C>T
  hgvsp: ENST00000563914.1:c.508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.34C>T
  hgvsp: ENST00000569141.1:c.34C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1119C>T
  hgvsp: ENST00000289416.5:c.1119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10804
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr373Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

16-20796406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796406
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796406
    reference: chr 16
allele count: 4
allele frequency: 3.296196189597204e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.35G>A
  hgvsp: ENSP00000457608.1:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1096G>A
  hgvsp: ENSP00000395297.2:p.Glu366Lys
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1106G>A
  hgvsp: ENSP00000456767.1:p.Glu370Lys
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4350C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.509G>A
  hgvsp: ENSP00000457926.1:p.Glu171Lys
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1120G>A
  hgvsp: ENSP00000289416.5:p.Glu374Lys
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.182G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1120G>A
  hgvsp: ENSP00000394565.2:p.Glu374Lys
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.429G>A
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu374Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-20796414-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796414
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796414
    reference: chr 16
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.517T>C
  hgvsp: ENST00000563914.1:c.517T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.43T>C
  hgvsp: ENST00000569141.1:c.43T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1128T>C
  hgvsp: ENST00000289416.5:c.1128T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1104T>C
  hgvsp: ENST00000450120.2:c.1104T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1114T>C
  hgvsp: ENST00000562251.1:c.1114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4358A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.437T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1128T>C
  hgvsp: ENST00000440284.2:c.1128T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.190T>C
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr376Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

16-20796426-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796426
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796426
    reference: chr 16
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1140A>G
  hgvsp: ENST00000440284.2:c.1140A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.449A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.529A>G
  hgvsp: ENST00000563914.1:c.529A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1116A>G
  hgvsp: ENST00000450120.2:c.1116A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.55A>G
  hgvsp: ENST00000569141.1:c.55A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4370T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1126A>G
  hgvsp: ENST00000562251.1:c.1126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1140A>G
  hgvsp: ENST00000289416.5:c.1140A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.202A>G
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu380Glu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

16-20796427-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796427
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796427
    reference: chr 16
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4371T>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.56A>T
  hgvsp: ENSP00000457608.1:p.Thr20Ser
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1141A>T
  hgvsp: ENSP00000289416.5:p.Thr381Ser
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1117A>T
  hgvsp: ENSP00000395297.2:p.Thr373Ser
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.530A>T
  hgvsp: ENSP00000457926.1:p.Thr178Ser
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1127A>T
  hgvsp: ENSP00000456767.1:p.Thr377Ser
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.450A>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.203A>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1141A>T
  hgvsp: ENSP00000394565.2:p.Thr381Ser
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr381Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

16-20796428-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796428
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796428
    reference: chr 16
allele count: 6
allele frequency: 4.947555907381753e-5
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1142C>T
  hgvsp: ENSP00000394565.2:p.Thr381Met
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1118C>T
  hgvsp: ENSP00000395297.2:p.Thr373Met
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.451C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.57C>T
  hgvsp: ENSP00000457608.1:p.Thr20Met
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.531C>T
  hgvsp: ENSP00000457926.1:p.Thr178Met
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.204C>T
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1128C>T
  hgvsp: ENSP00000456767.1:p.Thr377Met
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.895-4372G>A
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1142C>T
  hgvsp: ENSP00000289416.5:p.Thr381Met
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25104
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr381Met
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff

16-20796429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796429
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796429
    reference: chr 16
allele count: 3
allele frequency: 2.47390035129385e-5
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.532G>A
  hgvsp: ENST00000563914.1:c.532G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1119G>A
  hgvsp: ENST00000450120.2:c.1119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+4372C>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.58G>A
  hgvsp: ENST00000569141.1:c.58G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1143G>A
  hgvsp: ENST00000440284.2:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1129G>A
  hgvsp: ENST00000562251.1:c.1129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1143G>A
  hgvsp: ENST00000289416.5:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.205G>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.452G>A
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1143G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/16-20796439-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796439
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796439
    reference: chr 16
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1129+10C>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.58+10C>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1143+10C>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.532+10C>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+4362G>T
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.205+10C>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1143+10C>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1119+10C>A
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.452+10C>A
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10196
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

16-20796454-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796454
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796454
    reference: chr 16
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.58+25T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1143+25T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1143+25T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1129+25T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1119+25T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.452+25T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.205+25T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+4347A>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.532+25T>C
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

16-20796462-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20796462
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20796462
    reference: chr 16
allele count: 61
allele frequency: 5.036992997753996e-4
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1143+33T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.205+33T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.452+33T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.58+33T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.532+33T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1119+33T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1129+33T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1143+33T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+4339A>G
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8664
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11157
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-20797350-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20797350
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20797350
    reference: chr 16
allele count: 13
allele frequency: 1.289938479857115e-4
allele num: 100780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.206-50A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.59-50A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.453-50A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1144-50A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.533-50A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1144-50A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1130-50A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1120-50A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+3451T>G
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14108
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12984
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

16-20797351-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20797351
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20797351
    reference: chr 16
allele count: 4
allele frequency: 3.971879096000318e-5
allele num: 100708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1130-49A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1120-49A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.206-49A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+3450T>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1144-49A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.59-49A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.533-49A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1144-49A>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.453-49A>G
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12973
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13666
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

16-20797353-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20797353
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20797353
    reference: chr 16
allele count: 15
allele frequency: 1.486384716001427e-4
allele num: 100916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+3448A>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.206-47T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1120-47T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.453-47T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1130-47T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1144-47T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1144-47T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.533-47T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.59-47T>G
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13685
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-20797354-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20797354
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20797354
    reference: chr 16
allele count: 1
allele frequency: 9.902362703741113e-6
allele num: 100986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1144-46T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1130-46T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.453-46T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1144-46T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.59-46T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1120-46T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.206-46T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.533-46T>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+3447A>G
  variant of: http://identifiers.org/hgnc/30541
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7462
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

16-20797363-TTGTAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20797363
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20797358
    reference: chr 16
allele count: 5
allele frequency: 4.917968288940473e-5
allele num: 101668
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1144-33_1144-29delAATGT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+3433_894+3437delTTACA
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.533-33_533-29delAATGT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.206-33_206-29delAATGT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1120-33_1120-29delAATGT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1130-33_1130-29delAATGT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.59-33_59-29delAATGT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.453-33_453-29delAATGT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1144-33_1144-29delAATGT
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23050
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8485
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: TTGTAA
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

16-20797374-TCTTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20797374
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20797370
    reference: chr 16
allele count: 3
allele frequency: 2.879078694817658e-5
allele num: 104200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1120-22_1120-19delACTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1144-22_1144-19delACTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.453-22_453-19delACTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+3423_894+3426delTAAG
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.206-22_206-19delACTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1130-22_1130-19delACTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.59-22_59-19delACTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1144-22_1144-19delACTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.533-22_533-19delACTT
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: TCTTA
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

16-20797376-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20797376
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20797376
    reference: chr 16
allele count: 1
allele frequency: 9.532161512944676e-6
allele num: 104908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1130-24T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.59-24T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1144-24T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.533-24T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1144-24T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1120-24T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+3425A>C
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.453-24T>G
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.206-24T>G
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10241
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6855
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

16-20797382-TTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20797382
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20797379
    reference: chr 16
allele count: 1
allele frequency: 9.331840238895109e-6
allele num: 107160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1130-9_1130-7delCTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.453-9_453-7delCTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1144-9_1144-7delCTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+3416_894+3418delGAA
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.206-9_206-7delCTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1144-9_1144-7delCTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.59-9_59-7delCTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1120-9_1120-7delCTT
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.533-9_533-7delCTT
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: TTTC
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/16-20797398-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20797398
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 20797398
    reference: chr 16
allele count: 1
allele frequency: 8.876264867743653e-6
allele num: 112660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000561499
  gene symbol: ACSM3
  hgvsc: ENST00000561499.1:n.453-2A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196678
  ensembl protein: ENSP00000300005
  ensembl transcript: ENST00000300005
  gene symbol: ERI2
  hgvsc: ENST00000300005.3:c.894+3403T>G
  variant of: http://identifiers.org/hgnc/30541
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457926
  ensembl transcript: ENST00000563914
  gene symbol: ACSM3
  hgvsc: ENST00000563914.1:c.533-2A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000456767
  ensembl transcript: ENST00000562251
  gene symbol: ACSM3
  hgvsc: ENST00000562251.1:c.1130-2A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000395297
  ensembl transcript: ENST00000450120
  gene symbol: ACSM3
  hgvsc: ENST00000450120.2:c.1120-2A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000457608
  ensembl transcript: ENST00000569141
  gene symbol: ACSM3
  hgvsc: ENST00000569141.1:c.59-2A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000005187
  ensembl transcript: ENST00000567387
  gene symbol: ACSM3
  hgvsc: ENST00000567387.1:n.206-2A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000289416
  ensembl transcript: ENST00000289416
  gene symbol: ACSM3
  hgvsc: ENST00000289416.5:c.1144-2A>C
  variant of: http://identifiers.org/hgnc/10522
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000005187
  ensembl protein: ENSP00000394565
  ensembl transcript: ENST00000440284
  gene symbol: ACSM3
  hgvsc: ENST00000440284.2:c.1144-2A>C
  variant of: http://identifiers.org/hgnc/10522
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1144-2A>C
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A

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

GenotypeQuality
all individuals: 48693
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 613
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14008
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519572088499878e-5
allele num: 65808
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.756e0

QD
type: SiteQuality
SIO_000300: 1.413e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.397e0

DP
type: SiteQuality
SIO_000300: 3.726916e6

GenotypeQuality
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48694
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 613
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520172691617768e-5
allele num: 65782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.68e0

DP
type: SiteQuality
SIO_000300: 3.726721e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.681e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

GenotypeQuality
all individuals: 8376
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1935
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1691
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3490
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
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
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.432e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 2.069858e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.52e1

QD
type: SiteQuality
SIO_000300: 1.571e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11470
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22430
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507431637975218e-5
allele num: 66338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.009e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

QD
type: SiteQuality
SIO_000300: 1.786e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.036e0

DP
type: SiteQuality
SIO_000300: 2.072468e6

GenotypeQuality
all individuals: 613
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11468
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1367
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.609e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.44e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 2.075528e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25831
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11474
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8514
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 1.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.06e1

VQSLOD
type: SiteQuality
SIO_000300: -5.033e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

DP
type: SiteQuality
SIO_000300: 2.093347e6

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11486
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27346
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.105e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

VQSLOD
type: SiteQuality
SIO_000300: -4.442e-1

QD
type: SiteQuality
SIO_000300: 1.513e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 2.10911e6

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3484
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11484
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1279
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

FS
type: SiteQuality
SIO_000300: 4.429e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-3

QD
type: SiteQuality
SIO_000300: 1.044e1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.11541e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.321e0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 2.117208e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.044e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1277
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8756
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.503e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 4.818e0

QD
type: SiteQuality
SIO_000300: 1.463e1

DP
type: SiteQuality
SIO_000300: 2.120378e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.442e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11489
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3492
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.12055e6

InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
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MQ
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 2.120629e6

BaseQRankSum
type: SiteQuality
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VQSLOD
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SIO_000300: -1.08e-2

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

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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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

FS
type: SiteQuality
SIO_000300: 1.862e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
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ClippingRankSum
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SIO_000300: 3.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.79e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 9.67e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.453e0

FS
type: SiteQuality
SIO_000300: 2.273e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.932e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 2.120759e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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
all individuals: 2854
bin: 7.25e1
variant carriers: 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: 10402
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.897e1

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.483e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.608e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.836e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 10
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

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

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

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

East Asian
type: Population
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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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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66688
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BaseQRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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

Latino
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allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

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

East Asian
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Other
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allele num: 904
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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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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Latino
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allele frequency: 5.203816131830009e-4
allele num: 11530
num of homozygotes: 0

East Asian
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European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.399736029036806e-4
allele num: 66674
num of homozygotes: 0

Other
type: Population
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African
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South Asian
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European (Finnish)
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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MQ
type: SiteQuality
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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
all individuals: 23
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.06e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.120895e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

GenotypeQuality
all individuals: 1275
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3485
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2854
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11532
bin: 9.75e1
variant carriers: 72

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

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 71
allele frequency: 8.206195099398983e-3
allele num: 8652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.123918e6

QD
type: SiteQuality
SIO_000300: 1.164e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.42e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11491
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3482
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.119315e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

VQSLOD
type: SiteQuality
SIO_000300: -1.339e0

QD
type: SiteQuality
SIO_000300: 1.82e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -1.806e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.783e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11490
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1856
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

MQRankSum
type: SiteQuality
SIO_000300: -4.468e0

FS
type: SiteQuality
SIO_000300: 8.95e-1

MQ
type: SiteQuality
SIO_000300: 5.161e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 2.109279e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.08e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.14e-1

GenotypeQuality
all individuals: 23044
bin: 6.25e1
variant carriers: 29

GenotypeQuality
all individuals: 7044
bin: 6.75e1
variant carriers: 23

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 931
bin: 9.25e1
variant carriers: 51

GenotypeQuality
all individuals: 2004
bin: 7.25e1
variant carriers: 23

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1421
bin: 8.25e1
variant carriers: 44

East Asian
type: Population
allele count: 1938
allele frequency: 2.251917267023007e-1
allele num: 8606
num of homozygotes: 205

Latino
type: Population
allele count: 934
allele frequency: 8.142981691368788e-2
allele num: 11470
num of homozygotes: 43

European (Non-Finnish)
type: Population
allele count: 9861
allele frequency: 1.485403548941042e-1
allele num: 66386
num of homozygotes: 726

South Asian
type: Population
allele count: 3326
allele frequency: 2.018203883495146e-1
allele num: 16480
num of homozygotes: 383

African
type: Population
allele count: 971
allele frequency: 9.361743154647127e-2
allele num: 10372
num of homozygotes: 47

Other
type: Population
allele count: 161
allele frequency: 1.784922394678492e-1
allele num: 902
num of homozygotes: 19

European (Finnish)
type: Population
allele count: 1129
allele frequency: 1.712162572035184e-1
allele num: 6594
num of homozygotes: 106

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.77e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

DP
type: SiteQuality
SIO_000300: 2.294981e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.15e0

QD
type: SiteQuality
SIO_000300: 1.649e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

GenotypeQuality
all individuals: 1575
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6410
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3132
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.179e1

VQSLOD
type: SiteQuality
SIO_000300: -1.783e0

FS
type: SiteQuality
SIO_000300: 9.645e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: -1.823e0

DP
type: SiteQuality
SIO_000300: 1.960336e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.296e0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21553
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.782715615668365e-4
allele num: 11386
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.212e0

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.171e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 1.818307e6

GenotypeQuality
all individuals: 2782
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22086
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 542
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4877
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9239
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01987074953192e-5
allele num: 66228
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.119951040391676e-4
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

MQ
type: SiteQuality
SIO_000300: 6.047e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 1.954e0

DP
type: SiteQuality
SIO_000300: 2.155734e6

QD
type: SiteQuality
SIO_000300: 1.128e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

GenotypeQuality
all individuals: 237
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4303
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22120
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5582
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.747030048916841e-4
allele num: 11448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.095e0

DP
type: SiteQuality
SIO_000300: 2.169667e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 2.901e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.886e0

VQSLOD
type: SiteQuality
SIO_000300: -2.078e0

QD
type: SiteQuality
SIO_000300: 9.65e0

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

GenotypeQuality
all individuals: 2869
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5278
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 434
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4337
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5129
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5683
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22142
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173158141717503e-4
allele num: 8524
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: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

QD
type: SiteQuality
SIO_000300: 9.68e0

DP
type: SiteQuality
SIO_000300: 2.181587e6

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4343
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22208
bin: 9.75e1
variant carriers: 138

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

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

African
type: Population
allele count: 136
allele frequency: 1.346001583531275e-2
allele num: 10104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

Latino
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allele count: 3
allele frequency: 2.615974886641088e-4
allele num: 11468
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.186978e6

FS
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQRankSum
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SIO_000300: 1.93e-1

QD
type: SiteQuality
SIO_000300: 1.45e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004266057802079e-5
allele num: 66572
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.464e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.713e-1

FS
type: SiteQuality
SIO_000300: 1.0084e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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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bin: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.733307377846993e-5
allele num: 10274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.194625e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

FS
type: SiteQuality
SIO_000300: 1.372e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeQuality
all individuals: 24
bin: 5.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5340
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

FS
type: SiteQuality
SIO_000300: 8.4e-1

DP
type: SiteQuality
SIO_000300: 2.195874e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

QD
type: SiteQuality
SIO_000300: 1.545e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5233
bin: 7.75e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.52e0

FS
type: SiteQuality
SIO_000300: 5.344e0

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

DP
type: SiteQuality
SIO_000300: 2.197288e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.423e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.742e-1

FS
type: SiteQuality
SIO_000300: 9.183e0

QD
type: SiteQuality
SIO_000300: 1.29e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.198712e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.317e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.371e0

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: 9.75e1
variant carriers: 137

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 23
allele frequency: 2.212815085626323e-3
allele num: 10394
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 2.167128987517337e-3
allele num: 11536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 85
allele frequency: 1.274248193565796e-3
allele num: 66706
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 2.206521e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.379e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

South Asian
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allele count: 0
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African
type: Population
allele count: 0
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East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.203081e6

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 1.6e-3

BaseQRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Latino
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 2.203754e6

QD
type: SiteQuality
SIO_000300: 1.647e1

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

BaseQRankSum
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SIO_000300: 3.64e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.22e-1

FS
type: SiteQuality
SIO_000300: 1.185e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10404
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

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

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.05766900896535e-5
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num of homozygotes: 0

MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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SIO_000300: 4.23e-1

BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.034e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 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
allele num: 11542
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.207e0

VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: 5.22e-1

MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

Latino
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allele num: 11542
num of homozygotes: 0

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

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

African
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allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
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MQ
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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SIO_000300: 1.687e1

BaseQRankSum
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SIO_000300: -2.34e0

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

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

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

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

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 2.20431e6

FS
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.364e1

ClippingRankSum
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SIO_000300: -1.023e0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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FS
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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BaseQRankSum
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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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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 16510
num of homozygotes: 0

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

ReadPosRankSum
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SIO_000300: 1.2e0

QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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GenotypeQuality
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variant carriers: 7

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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East Asian
type: Population
allele count: 7
allele frequency: 8.096229470275272e-4
allele num: 8646
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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MQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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MQ
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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num of homozygotes: 0

Latino
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allele frequency: 8.659508139937652e-5
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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South Asian
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FS
type: SiteQuality
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QD
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4380
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5803
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

Latino
type: Population
allele count: 25
allele frequency: 2.164877034984413e-3
allele num: 11548
num of homozygotes: 1

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.12e-1

DP
type: SiteQuality
SIO_000300: 2.206383e6

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.54e-2

QD
type: SiteQuality
SIO_000300: 1.3e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3640
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9529
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4346
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2363
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4377
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4846
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 290
allele frequency: 2.787389465590158e-2
allele num: 10404
num of homozygotes: 3

Other
type: Population
allele count: 90
allele frequency: 9.933774834437085e-2
allele num: 906
num of homozygotes: 7

Latino
type: Population
allele count: 622
allele frequency: 5.386214063041219e-2
allele num: 11548
num of homozygotes: 21

European (Non-Finnish)
type: Population
allele count: 5798
allele frequency: 8.687964516902422e-2
allele num: 66736
num of homozygotes: 256

European (Finnish)
type: Population
allele count: 626
allele frequency: 9.467634603750756e-2
allele num: 6612
num of homozygotes: 34

East Asian
type: Population
allele count: 1934
allele frequency: 2.24050046339203e-1
allele num: 8632
num of homozygotes: 205

South Asian
type: Population
allele count: 1953
allele frequency: 1.182776162790698e-1
allele num: 16512
num of homozygotes: 145

QD
type: SiteQuality
SIO_000300: 1.442e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 6.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.62e-2

DP
type: SiteQuality
SIO_000300: 3.01269e6

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.52e-1

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25110
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4954
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5326
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4901
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

FS
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

DP
type: SiteQuality
SIO_000300: 2.418924e6

QD
type: SiteQuality
SIO_000300: 3.328e1

VQSLOD
type: SiteQuality
SIO_000300: -4.779e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 4264
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variant carriers: 0

GenotypeQuality
all individuals: 5328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4897
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variant carriers: 0

GenotypeQuality
all individuals: 3010
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25106
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4954
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 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: 10406
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: 66736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.159e0

DP
type: SiteQuality
SIO_000300: 2.418757e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.79e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4264
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25106
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3010
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4954
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10376
bin: 6.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 6
allele frequency: 5.76923076923077e-4
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495459585818323e-5
allele num: 66734
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.091e0

DP
type: SiteQuality
SIO_000300: 2.41885e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25107
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4263
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 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: 8644
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.263e0

DP
type: SiteQuality
SIO_000300: 2.418471e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.321e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25106
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10352
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.846e1

VQSLOD
type: SiteQuality
SIO_000300: -1.456e0

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.349e0

DP
type: SiteQuality
SIO_000300: 2.417972e6

QD
type: SiteQuality
SIO_000300: 1.307e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25103
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 3003
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variant carriers: 0

GenotypeQuality
all individuals: 10284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2678
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 2.4166e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

VQSLOD
type: SiteQuality
SIO_000300: -2.623e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.626e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

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

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4261
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 10
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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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

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

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

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

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

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

MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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FS
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VQSLOD
type: SiteQuality
SIO_000300: 1.72e-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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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

South Asian
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allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.997001499250375e-5
allele num: 66700
num of homozygotes: 0

VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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DP
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: -1.247e0

DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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FS
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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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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.683570684265369e-5
allele num: 11516
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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allele frequency: 5.789270551910459e-3
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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ClippingRankSum
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FS
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VQSLOD
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DP
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
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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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East Asian
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European (Non-Finnish)
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South Asian
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Other
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African
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Latino
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allele frequency: 1.225259189443921e-3
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European (Finnish)
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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Latino
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Other
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European (Non-Finnish)
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East Asian
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
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MQRankSum
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MQ
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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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African
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Latino
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South Asian
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European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.395040630558365e-4
allele num: 57346
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.659574468085106e-3
allele num: 752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.749841671944268e-4
allele num: 6316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.133e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.579e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.111399e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

GenotypeQuality
all individuals: 285
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5807
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5848
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3203
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.329787234042553e-3
allele num: 752
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.114905e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.271e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.1e0

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

GenotypeQuality
all individuals: 7089
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1501
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.686035613870666e-4
allele num: 10670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7676
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: -3.83e0

QD
type: SiteQuality
SIO_000300: 1.291e1

MQ
type: SiteQuality
SIO_000300: 4.709e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

DP
type: SiteQuality
SIO_000300: 1.18301e6

GenotypeQuality
all individuals: 2463
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37232
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6915
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.227194492254733e-4
allele num: 9296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.458e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.282482e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.052e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
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variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
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variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39223
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variant carriers: 0

GenotypeQuality
all individuals: 469
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variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.062925170068027e-4
allele num: 9408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59682
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.585e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.298144e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.011e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.472e0

QD
type: SiteQuality
SIO_000300: 1.54e1

GenotypeQuality
all individuals: 537
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
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variant carriers: 0

GenotypeQuality
all individuals: 453
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variant carriers: 0

GenotypeQuality
all individuals: 323
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variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
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variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42375
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.03179190751445e-5
allele num: 11072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.338003e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

FS
type: SiteQuality
SIO_000300: 3.044e0

QD
type: SiteQuality
SIO_000300: 1.689e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

GenotypeQuality
all individuals: 3725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47848
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 9.25e1
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GenotypeQuality
all individuals: 1498
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 567
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
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GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169864295741694e-4
allele num: 8548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0