2-158400945-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158400945
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158400945
    reference: chr 2
allele count: 2
allele frequency: 1.659943893896386e-5
allele num: 120486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.703+12C>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.793+12C>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.943+12C>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.472+12C>G
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22649
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

2-158400953-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158400953
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158400953
    reference: chr 2
allele count: 133
allele frequency: 1.100592499420741e-3
allele num: 120844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.472+4T>C
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.703+4T>C
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.793+4T>C
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.943+4T>C
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11460
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 8.25e1
  variant carriers: 0
hgvs: c.943+4T>C
num of homozygotes: 1
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

2-158400969-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158400969
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158400969
    reference: chr 2
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.691G>A
  hgvsp: ENSP00000335178.7:p.Val231Ile
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.931G>A
  hgvsp: ENSP00000243349.7:p.Val311Ile
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.781G>A
  hgvsp: ENSP00000387168.3:p.Val261Ile
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.460G>A
  hgvsp: ENSP00000335139.6:p.Val154Ile
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14938
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 109
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val311Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/2-158400970-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158400970
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158400970
    reference: chr 2
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.459T>G
  hgvsp: ENSP00000335139.6:p.Ile153Met
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.930T>G
  hgvsp: ENSP00000243349.7:p.Ile310Met
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.780T>G
  hgvsp: ENSP00000387168.3:p.Ile260Met
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.690T>G
  hgvsp: ENSP00000335178.7:p.Ile230Met
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22653
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile310Met
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-158400987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158400987
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158400987
    reference: chr 2
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.673C>T
  hgvsp: ENSP00000335178.7:p.His225Tyr
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.442C>T
  hgvsp: ENSP00000335139.6:p.His148Tyr
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.763C>T
  hgvsp: ENSP00000387168.3:p.His255Tyr
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.913C>T
  hgvsp: ENSP00000243349.7:p.His305Tyr
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22651
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His305Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-158400988-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158400988
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158400988
    reference: chr 2
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.912A>G
  hgvsp: ENST00000243349.8:c.912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.762A>G
  hgvsp: ENST00000409680.3:c.762A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.672A>G
  hgvsp: ENST00000335450.7:c.672A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.441A>G
  hgvsp: ENST00000348328.5:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22651
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala304Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

2-158400999-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158400999
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158400999
    reference: chr 2
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.430A>G
  hgvsp: ENSP00000335139.6:p.Ser144Gly
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.661A>G
  hgvsp: ENSP00000335178.7:p.Ser221Gly
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.751A>G
  hgvsp: ENSP00000387168.3:p.Ser251Gly
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.901A>G
  hgvsp: ENSP00000243349.7:p.Ser301Gly
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22653
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15079
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser301Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/2-158401003-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401003
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401003
    reference: chr 2
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.897T>G
  hgvsp: ENSP00000243349.7:p.Ile299Met
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.426T>G
  hgvsp: ENSP00000335139.6:p.Ile142Met
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.657T>G
  hgvsp: ENSP00000335178.7:p.Ile219Met
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.747T>G
  hgvsp: ENSP00000387168.3:p.Ile249Met
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile299Met
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-158401005-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401005
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401005
    reference: chr 2
allele count: 6
allele frequency: 4.944131316127757e-5
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.745A>G
  hgvsp: ENSP00000387168.3:p.Ile249Val
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.655A>G
  hgvsp: ENSP00000335178.7:p.Ile219Val
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.424A>G
  hgvsp: ENSP00000335139.6:p.Ile142Val
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.895A>G
  hgvsp: ENSP00000243349.7:p.Ile299Val
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile299Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-158401012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401012
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401012
    reference: chr 2
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.738G>A
  hgvsp: ENST00000409680.3:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.417G>A
  hgvsp: ENST00000348328.5:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.888G>A
  hgvsp: ENST00000243349.8:c.888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.648G>A
  hgvsp: ENST00000335450.7:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22654
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15054
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala296Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-158401013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401013
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401013
    reference: chr 2
allele count: 3
allele frequency: 2.471943441934048e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.647C>T
  hgvsp: ENSP00000335178.7:p.Ala216Val
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.887C>T
  hgvsp: ENSP00000243349.7:p.Ala296Val
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.416C>T
  hgvsp: ENSP00000335139.6:p.Ala139Val
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.737C>T
  hgvsp: ENSP00000387168.3:p.Ala246Val
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22656
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15033
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
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genotype quality: GenotypeQuality
  all individuals: 2290
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala296Val
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

2-158401014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401014
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401014
    reference: chr 2
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.886G>A
  hgvsp: ENSP00000243349.7:p.Ala296Thr
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.646G>A
  hgvsp: ENSP00000335178.7:p.Ala216Thr
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.415G>A
  hgvsp: ENSP00000335139.6:p.Ala139Thr
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.736G>A
  hgvsp: ENSP00000387168.3:p.Ala246Thr
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22655
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala296Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-158401015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401015
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401015
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.645G>A
  hgvsp: ENST00000335450.7:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.414G>A
  hgvsp: ENST00000348328.5:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.735G>A
  hgvsp: ENST00000409680.3:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.885G>A
  hgvsp: ENST00000243349.8:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15047
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu295Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-158401022-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401022
    reference: chr 2
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.638T>G
  hgvsp: ENSP00000335178.7:p.Ile213Ser
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.728T>G
  hgvsp: ENSP00000387168.3:p.Ile243Ser
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.878T>G
  hgvsp: ENSP00000243349.7:p.Ile293Ser
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.407T>G
  hgvsp: ENSP00000335139.6:p.Ile136Ser
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 15025
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile293Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

2-158401035-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401035
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401035
    reference: chr 2
allele count: 6
allele frequency: 4.943886883868097e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.865G>A
  hgvsp: ENSP00000243349.7:p.Val289Met
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.715G>A
  hgvsp: ENSP00000387168.3:p.Val239Met
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.625G>A
  hgvsp: ENSP00000335178.7:p.Val209Met
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.394G>A
  hgvsp: ENSP00000335139.6:p.Val132Met
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 221
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2289
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val289Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-158401036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401036
    reference: chr 2
allele count: 9
allele frequency: 7.416441426593711e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.714C>T
  hgvsp: ENST00000409680.3:c.714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.393C>T
  hgvsp: ENST00000348328.5:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.864C>T
  hgvsp: ENST00000243349.8:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.624C>T
  hgvsp: ENST00000335450.7:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11352
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 266
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genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22654
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3731
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genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr288Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-158401050-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401050
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.379A>G
  hgvsp: ENSP00000335139.6:p.Arg127Gly
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.700A>G
  hgvsp: ENSP00000387168.3:p.Arg234Gly
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.610A>G
  hgvsp: ENSP00000335178.7:p.Arg204Gly
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.850A>G
  hgvsp: ENSP00000243349.7:p.Arg284Gly
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22653
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg284Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

2-158401057-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401057
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401057
    reference: chr 2
allele count: 31
allele frequency: 2.554762571904205e-4
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.843T>C
  hgvsp: ENST00000243349.8:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.693T>C
  hgvsp: ENST00000409680.3:c.693T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.372T>C
  hgvsp: ENST00000348328.5:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.603T>C
  hgvsp: ENST00000335450.7:c.603T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22669
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5533
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr281Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-158401069-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401069
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401069
    reference: chr 2
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.360C>T
  hgvsp: ENST00000348328.5:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.591C>T
  hgvsp: ENST00000335450.7:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.831C>T
  hgvsp: ENST00000243349.8:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.681C>T
  hgvsp: ENST00000409680.3:c.681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22647
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser277Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-158401070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401070
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401070
    reference: chr 2
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.680C>T
  hgvsp: ENSP00000387168.3:p.Ser227Phe
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.830C>T
  hgvsp: ENSP00000243349.7:p.Ser277Phe
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.590C>T
  hgvsp: ENSP00000335178.7:p.Ser197Phe
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.359C>T
  hgvsp: ENSP00000335139.6:p.Ser120Phe
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22646
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5527
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser277Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-158401072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401072
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401072
    reference: chr 2
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.678C>T
  hgvsp: ENST00000409680.3:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.588C>T
  hgvsp: ENST00000335450.7:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.357C>T
  hgvsp: ENST00000348328.5:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.828C>T
  hgvsp: ENST00000243349.8:c.828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22647
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly276Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-158401076-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401076
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401076
    reference: chr 2
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.584A>C
  hgvsp: ENSP00000335178.7:p.Gln195Pro
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.824A>C
  hgvsp: ENSP00000243349.7:p.Gln275Pro
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.353A>C
  hgvsp: ENSP00000335139.6:p.Gln118Pro
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.674A>C
  hgvsp: ENSP00000387168.3:p.Gln225Pro
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22647
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln275Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

2-158401081-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401081
    reference: chr 2
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.669T>C
  hgvsp: ENST00000409680.3:c.669T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.819T>C
  hgvsp: ENST00000243349.8:c.819T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.348T>C
  hgvsp: ENST00000348328.5:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.579T>C
  hgvsp: ENST00000335450.7:c.579T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22647
  bin: 9.75e1
  variant carriers: 2
hgvs: p.His273His
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-158401087-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401087
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401087
    reference: chr 2
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.663A>T
  hgvsp: ENSP00000387168.3:p.Glu221Asp
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.573A>T
  hgvsp: ENSP00000335178.7:p.Glu191Asp
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.813A>T
  hgvsp: ENSP00000243349.7:p.Glu271Asp
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.342A>T
  hgvsp: ENSP00000335139.6:p.Glu114Asp
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22648
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu271Asp
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

2-158401087-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401087
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401087
    reference: chr 2
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.663A>G
  hgvsp: ENST00000409680.3:c.663A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.342A>G
  hgvsp: ENST00000348328.5:c.342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.813A>G
  hgvsp: ENST00000243349.8:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.573A>G
  hgvsp: ENST00000335450.7:c.573A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu271Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum

2-158401105-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401105
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401105
    reference: chr 2
allele count: 616
allele frequency: 5.079993402605971e-3
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.795A>G
  hgvsp: ENST00000243349.8:c.795A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.555A>G
  hgvsp: ENST00000335450.7:c.555A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.645A>G
  hgvsp: ENST00000409680.3:c.645A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.324A>G
  hgvsp: ENST00000348328.5:c.324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10074
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 4.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 5.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 4.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 127
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5452
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln265Gln
num of homozygotes: 13
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-158401109-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401109
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401109
    reference: chr 2
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.641C>G
  hgvsp: ENSP00000387168.3:p.Thr214Ser
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.791C>G
  hgvsp: ENSP00000243349.7:p.Thr264Ser
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.551C>G
  hgvsp: ENSP00000335178.7:p.Thr184Ser
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.320C>G
  hgvsp: ENSP00000335139.6:p.Thr107Ser
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr264Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-158401119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401119
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401119
    reference: chr 2
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.541G>A
  hgvsp: ENSP00000335178.7:p.Gly181Arg
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.631G>A
  hgvsp: ENSP00000387168.3:p.Gly211Arg
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.310G>A
  hgvsp: ENSP00000335139.6:p.Gly104Arg
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.781G>A
  hgvsp: ENSP00000243349.7:p.Gly261Arg
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly261Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-158401129-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401129
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401129
    reference: chr 2
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-5G>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5G>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-5G>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-5G>T
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: c.776-5G>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-158401132-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401132
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401131
    reference: chr 2
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-9delT
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-9delT
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-9delT
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-9delT
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3709
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-158401137-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401137
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401137
    reference: chr 2
allele count: 94697
allele frequency: 7.834226810946755e-1
allele num: 120876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-13A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-13A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-13A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-13A>G
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 2.25e1
  variant carriers: 2657
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 7.25e1
  variant carriers: 1134
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 6.25e1
  variant carriers: 2560
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 345
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 5.75e1
  variant carriers: 3879
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 5.25e1
  variant carriers: 5408
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.75e1
  variant carriers: 810
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.75e1
  variant carriers: 1185
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 9.75e1
  variant carriers: 3147
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 2.75e1
  variant carriers: 4651
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 4.25e1
  variant carriers: 7445
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 4.75e1
  variant carriers: 6712
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 3.75e1
  variant carriers: 7405
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 3.25e1
  variant carriers: 6501
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.25e1
  variant carriers: 614
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 458
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 1708
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 478
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.75e1
  variant carriers: 1058
genotype quality: GenotypeQuality
  all individuals: 49620
  bin: 9.75e1
  variant carriers: 49358
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.25e1
  variant carriers: 504
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.75e1
  variant carriers: 767
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 758
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 253
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 6.25e1
  variant carriers: 604
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.25e1
  variant carriers: 364
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 238
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.25e1
  variant carriers: 1297
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.25e1
  variant carriers: 1538
num of homozygotes: 37649
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

2-158401138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401138
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401138
    reference: chr 2
allele count: 5
allele frequency: 4.208045783538125e-5
allele num: 118820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-14C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-14C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-14C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-14C>T
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12678
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-158401140-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401140
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401140
    reference: chr 2
allele count: 7
allele frequency: 5.902092713444967e-5
allele num: 118602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-16T>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-16T>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-16T>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-16T>G
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26686
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7983
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-158401157-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401157
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401157
    reference: chr 2
allele count: 2
allele frequency: 1.713561122725248e-5
allele num: 116716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-33A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-33A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-33A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-33A>G
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7786
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

2-158401159-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401159
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401159
    reference: chr 2
allele count: 39
allele frequency: 3.355704697986577e-4
allele num: 116220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-35G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-35G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-35G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-35G>A
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9309
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16924
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5363
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7925
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

2-158401165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401165
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401165
    reference: chr 2
allele count: 1
allele frequency: 8.67694016382063e-6
allele num: 115248
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-41C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-41C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-41C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-41C>T
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5967
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 14825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

2-158401165-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401165
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401165
    reference: chr 2
allele count: 1
allele frequency: 8.67694016382063e-6
allele num: 115248
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-41C>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-41C>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-41C>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-41C>G
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12513
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5967
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-158401167-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401167
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401167
    reference: chr 2
allele count: 1
allele frequency: 8.711408460519897e-6
allele num: 114792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-43C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-43C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-43C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-43C>T
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15211
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6494
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 125
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-158401173-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401173
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401173
    reference: chr 2
allele count: 3
allele frequency: 2.664961091568063e-5
allele num: 112572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-49T>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-49T>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-49T>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-49T>G
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14953
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 384
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genotype quality: GenotypeQuality
  all individuals: 746
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genotype quality: GenotypeQuality
  all individuals: 497
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1375
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1331
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5973
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-158401175-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158401175
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158401175
    reference: chr 2
allele count: 4
allele frequency: 3.604447888694649e-5
allele num: 110974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.626-51G>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-51G>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.536-51G>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.776-51G>T
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10748
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14885
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3583
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genotype depth: GenotypeDepth
  all individuals: 7986
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1201
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6992
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

2-158406624-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406624
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406624
    reference: chr 2
allele count: 7
allele frequency: 5.884924504825638e-5
allele num: 118948
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.775+50G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5500G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.625+50G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.535+50G>A
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16503
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-158406624-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406624
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406624
    reference: chr 2
allele count: 1
allele frequency: 8.407035006893769e-6
allele num: 118948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.625+50G>C
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.775+50G>C
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5500G>C
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.535+50G>C
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

2-158406625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406625
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406625
    reference: chr 2
allele count: 5
allele frequency: 4.200480534973201e-5
allele num: 119034
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.775+49C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5501C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.535+49C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.625+49C>T
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12739
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7529
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 2
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-158406626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406626
    reference: chr 2
allele count: 18
allele frequency: 1.509206157561123e-4
allele num: 119268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.535+48G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.625+48G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5502G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.775+48G>A
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5885
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13352
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16837
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

2-158406627-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406627
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406627
    reference: chr 2
allele count: 1
allele frequency: 8.372264362619514e-6
allele num: 119442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5503A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.775+47A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.535+47A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.625+47A>G
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14088
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7539
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22524
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-158406649-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406649
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406649
    reference: chr 2
allele count: 1
allele frequency: 8.308960382876895e-6
allele num: 120352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.535+25A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5525A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.775+25A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.625+25A>G
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7560
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/2-158406656-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406656
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406656
    reference: chr 2
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.625+18G>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5532G>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.535+18G>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.775+18G>T
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

2-158406692-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406692
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406692
    reference: chr 2
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5568A>C
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.517A>C
  hgvsp: ENSP00000335178.7:p.Ile173Leu
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.757A>C
  hgvsp: ENSP00000243349.7:p.Ile253Leu
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.607A>C
  hgvsp: ENSP00000387168.3:p.Ile203Leu
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8680
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31919
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2978
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genotype quality: GenotypeQuality
  all individuals: 2671
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile253Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-158406699-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406699
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406699
    reference: chr 2
allele count: 4
allele frequency: 3.295761650517435e-5
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5575T>C
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.510T>C
  hgvsp: ENST00000335450.7:c.510T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.750T>C
  hgvsp: ENST00000243349.8:c.750T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.600T>C
  hgvsp: ENST00000409680.3:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu250Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

2-158406700-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406700
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406700
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.509T>C
  hgvsp: ENSP00000335178.7:p.Leu170Pro
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5576T>C
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.599T>C
  hgvsp: ENSP00000387168.3:p.Leu200Pro
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.749T>C
  hgvsp: ENSP00000243349.7:p.Leu250Pro
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7563
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu250Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

2-158406701-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406701
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.748C>A
  hgvsp: ENSP00000243349.7:p.Leu250Ile
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.598C>A
  hgvsp: ENSP00000387168.3:p.Leu200Ile
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5577C>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.508C>A
  hgvsp: ENSP00000335178.7:p.Leu170Ile
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8682
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7563
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu250Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-158406702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406702
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406702
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.597C>T
  hgvsp: ENST00000409680.3:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.747C>T
  hgvsp: ENST00000243349.8:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5578C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.507C>T
  hgvsp: ENST00000335450.7:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile249Ile
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

2-158406704-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406704
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406704
    reference: chr 2
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5580A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.505A>G
  hgvsp: ENSP00000335178.7:p.Ile169Val
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.745A>G
  hgvsp: ENSP00000243349.7:p.Ile249Val
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.595A>G
  hgvsp: ENSP00000387168.3:p.Ile199Val
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile249Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-158406705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406705
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406705
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.594C>T
  hgvsp: ENST00000409680.3:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5581C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.744C>T
  hgvsp: ENST00000243349.8:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.504C>T
  hgvsp: ENST00000335450.7:c.504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7562
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn248Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-158406716-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406716
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.493C>A
  hgvsp: ENST00000335450.7:c.493C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5592C>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.733C>A
  hgvsp: ENST00000243349.8:c.733C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.583C>A
  hgvsp: ENST00000409680.3:c.583C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg245Arg
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-158406726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406726
    reference: chr 2
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.483G>A
  hgvsp: ENST00000335450.7:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5602G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.573G>A
  hgvsp: ENST00000409680.3:c.573G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.723G>A
  hgvsp: ENST00000243349.8:c.723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7562
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr241Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-158406748-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406748
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.461G>T
  hgvsp: ENSP00000335178.7:p.Arg154Leu
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.701G>T
  hgvsp: ENSP00000243349.7:p.Arg234Leu
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.551G>T
  hgvsp: ENSP00000387168.3:p.Arg184Leu
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5624G>T
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7562
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31965
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg234Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

2-158406748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406748
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406748
    reference: chr 2
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.701G>A
  hgvsp: ENSP00000243349.7:p.Arg234His
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.461G>A
  hgvsp: ENSP00000335178.7:p.Arg154His
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.551G>A
  hgvsp: ENSP00000387168.3:p.Arg184His
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5624G>A
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7562
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg234His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

2-158406753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406753
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406753
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.456G>A
  hgvsp: ENSP00000335178.7:p.Trp152Ter
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.696G>A
  hgvsp: ENSP00000243349.7:p.Trp232Ter
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5629G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.546G>A
  hgvsp: ENSP00000387168.3:p.Trp182Ter
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 8688
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 31966
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp232Ter
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

2-158406758-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406758
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406758
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.451T>C
  hgvsp: ENSP00000335178.7:p.Ser151Pro
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.541T>C
  hgvsp: ENSP00000387168.3:p.Ser181Pro
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5634T>C
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.691T>C
  hgvsp: ENSP00000243349.7:p.Ser231Pro
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 7560
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 8692
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser231Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-158406771-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406771
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406771
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.528C>G
  hgvsp: ENST00000409680.3:c.528C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.438C>G
  hgvsp: ENST00000335450.7:c.438C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5647C>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.678C>G
  hgvsp: ENST00000243349.8:c.678C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser226Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

2-158406774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406774
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406774
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5650C>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.525C>T
  hgvsp: ENST00000409680.3:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.675C>T
  hgvsp: ENST00000243349.8:c.675C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.435C>T
  hgvsp: ENST00000335450.7:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser225Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

2-158406777-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406777
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406777
    reference: chr 2
allele count: 211
allele frequency: 1.738342395781842e-3
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.672C>T
  hgvsp: ENST00000243349.8:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.432C>T
  hgvsp: ENST00000335450.7:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.522C>T
  hgvsp: ENST00000409680.3:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5653C>T
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 524
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2965
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31907
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 7683
  bin: 9.75e1
  variant carriers: 206
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8664
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe224Phe
num of homozygotes: 5
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-158406778-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406778
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406778
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.671T>A
  hgvsp: ENSP00000243349.7:p.Phe224Tyr
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.521T>A
  hgvsp: ENSP00000387168.3:p.Phe174Tyr
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5654T>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.431T>A
  hgvsp: ENSP00000335178.7:p.Phe144Tyr
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8695
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7547
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Phe224Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-158406781-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406781
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406781
    reference: chr 2
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.518T>A
  hgvsp: ENSP00000387168.3:p.Ile173Lys
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.668T>A
  hgvsp: ENSP00000243349.7:p.Ile223Lys
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.428T>A
  hgvsp: ENSP00000335178.7:p.Ile143Lys
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5657T>A
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 204
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 8696
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile223Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/2-158406787-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406787
    reference: chr 2
allele count: 85
allele frequency: 7.053707760738232e-4
allele num: 120504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5663T>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.662T>G
  hgvsp: ENSP00000243349.7:p.Val221Gly
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.422T>G
  hgvsp: ENSP00000335178.7:p.Val141Gly
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.512T>G
  hgvsp: ENSP00000387168.3:p.Val171Gly
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3883
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6933
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 31909
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8664
  bin: 6.75e1
  variant carriers: 2
hgvs: p.Val221Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-158406801-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406801
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406801
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5677G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.408G>A
  hgvsp: ENST00000335450.7:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.648G>A
  hgvsp: ENST00000243349.8:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.498G>A
  hgvsp: ENST00000409680.3:c.498G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 7233
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly216Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-158406803-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406803
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406803
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.646G>C
  hgvsp: ENSP00000243349.7:p.Gly216Arg
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5679G>C
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.496G>C
  hgvsp: ENSP00000387168.3:p.Gly166Arg
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.406G>C
  hgvsp: ENSP00000335178.7:p.Gly136Arg
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7234
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2984
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genotype quality: GenotypeQuality
  all individuals: 2703
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly216Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-158406804-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406804
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406804
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.645T>G
  hgvsp: ENSP00000243349.7:p.Cys215Trp
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.405T>G
  hgvsp: ENSP00000335178.7:p.Cys135Trp
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5680T>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.495T>G
  hgvsp: ENSP00000387168.3:p.Cys165Trp
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys215Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-158406807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406807
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406807
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.492G>A
  hgvsp: ENSP00000387168.3:p.Trp164Ter
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.642G>A
  hgvsp: ENSP00000243349.7:p.Trp214Ter
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.402G>A
  hgvsp: ENSP00000335178.7:p.Trp134Ter
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5683G>A
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7234
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp214Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-158406817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406817
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406817
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.632A>G
  hgvsp: ENSP00000243349.7:p.His211Arg
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.392A>G
  hgvsp: ENSP00000335178.7:p.His131Arg
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5693A>G
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.482A>G
  hgvsp: ENSP00000387168.3:p.His161Arg
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32149
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7234
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His211Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-158406819-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406819
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406819
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.480G>C
  hgvsp: ENSP00000387168.3:p.Trp160Cys
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.390G>C
  hgvsp: ENSP00000335178.7:p.Trp130Cys
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.630G>C
  hgvsp: ENSP00000243349.7:p.Trp210Cys
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5695G>C
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19658
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 153
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genotype depth: GenotypeDepth
  all individuals: 1962
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
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genotype depth: GenotypeDepth
  all individuals: 340
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genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp210Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

2-158406822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406822
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406822
    reference: chr 2
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.477G>A
  hgvsp: ENST00000409680.3:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.387G>A
  hgvsp: ENST00000335450.7:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5698G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.627G>A
  hgvsp: ENST00000243349.8:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val209Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-158406838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406838
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5714G>A
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.461G>A
  hgvsp: ENSP00000387168.3:p.Gly154Asp
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.611G>A
  hgvsp: ENSP00000243349.7:p.Gly204Asp
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.371G>A
  hgvsp: ENSP00000335178.7:p.Gly124Asp
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly204Asp
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-158406839-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 158406839
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 158406839
    reference: chr 2
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335178
  ensembl transcript: ENST00000335450
  gene symbol: ACVR1C
  hgvsc: ENST00000335450.7:c.370G>T
  hgvsp: ENSP00000335178.7:p.Gly124Cys
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000335139
  ensembl transcript: ENST00000348328
  gene symbol: ACVR1C
  hgvsc: ENST00000348328.5:c.305-5715G>T
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000243349
  ensembl transcript: ENST00000243349
  gene symbol: ACVR1C
  hgvsc: ENST00000243349.8:c.610G>T
  hgvsp: ENSP00000243349.7:p.Gly204Cys
  variant of: http://identifiers.org/hgnc/18123
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123612
  ensembl protein: ENSP00000387168
  ensembl transcript: ENST00000409680
  gene symbol: ACVR1C
  hgvsc: ENST00000409680.3:c.460G>T
  hgvsp: ENSP00000387168.3:p.Gly154Cys
  variant of: http://identifiers.org/hgnc/18123
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly204Cys
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 14077
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
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: 15984
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: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.305e0

QD
type: SiteQuality
SIO_000300: 2.659e1

DP
type: SiteQuality
SIO_000300: 2.268144e6

VQSLOD
type: SiteQuality
SIO_000300: -3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 22733
bin: 9.75e1
variant carriers: 131

GenotypeQuality
all individuals: 307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4231
bin: 7.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.596053997923157e-4
allele num: 11556
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 129
allele frequency: 1.938741771619225e-3
allele num: 66538
num of homozygotes: 1

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.022e0

QD
type: SiteQuality
SIO_000300: 1.277e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

FS
type: SiteQuality
SIO_000300: 7.58e-1

DP
type: SiteQuality
SIO_000300: 2.280873e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

GenotypeQuality
all individuals: 4163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22653
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2835
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5520
bin: 6.75e1
variant carriers: 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: 16466
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: 66642
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.26e0

QD
type: SiteQuality
SIO_000300: 1.054e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.37e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.286897e6

GenotypeQuality
all individuals: 4161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5530
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14981
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
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: 66646
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.43e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.81e-1

DP
type: SiteQuality
SIO_000300: 2.287042e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

FS
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

GenotypeQuality
all individuals: 2291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.358e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.37e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: -1.436e0

DP
type: SiteQuality
SIO_000300: 2.288516e6

QD
type: SiteQuality
SIO_000300: 1.101e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
all individuals: 15063
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5538
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.288502e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 7.44e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.314e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.57e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.373e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.889e0

VQSLOD
type: SiteQuality
SIO_000300: -1.195e0

FS
type: SiteQuality
SIO_000300: 8.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

DP
type: SiteQuality
SIO_000300: 2.288842e6

GenotypeQuality
all individuals: 22654
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.06e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.356e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 4.303e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 2.28884e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 1.298e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

African
type: Population
allele count: 4
allele frequency: 3.847633705271258e-4
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
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: 6612
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 2.289214e6

QD
type: SiteQuality
SIO_000300: 1.366e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

GenotypeQuality
all individuals: 4250
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 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: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
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: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.53e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.071e0

VQSLOD
type: SiteQuality
SIO_000300: -1.337e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.094e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.288871e6

GenotypeQuality
all individuals: 3730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
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: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.162e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.349e0

DP
type: SiteQuality
SIO_000300: 2.289154e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

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

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 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: 6612
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: 2
allele frequency: 2.997601918465228e-5
allele num: 66720
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 1.29e0

DP
type: SiteQuality
SIO_000300: 2.289131e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.185e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.521e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 6612
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 16510
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.54e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.28917e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

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 (Finnish)
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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: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

FS
type: SiteQuality
SIO_000300: 1.729e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

DP
type: SiteQuality
SIO_000300: 2.289146e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.409e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.779010633379565e-4
allele num: 8652
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 2.289158e6

QD
type: SiteQuality
SIO_000300: 1.238e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 5535
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.322268326417704e-4
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
type: Population
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: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995563283170454e-5
allele num: 66716
num of homozygotes: 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
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allele num: 8650
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.289493e6

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2833
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14989
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

VQSLOD
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 1.586e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.289062e6

GenotypeQuality
all individuals: 2285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4160
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 29
allele frequency: 2.791682710820177e-3
allele num: 10388
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.290867e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

QD
type: SiteQuality
SIO_000300: 1.478e1

GenotypeQuality
all individuals: 2285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 2.289134e6

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

FS
type: SiteQuality
SIO_000300: 4.123e0

QD
type: SiteQuality
SIO_000300: 1.474e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

GenotypeQuality
all individuals: 4161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
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: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.32e1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.788e0

DP
type: SiteQuality
SIO_000300: 2.28916e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

FS
type: SiteQuality
SIO_000300: 7.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.066e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5524
bin: 6.75e1
variant carriers: 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

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

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

African
type: Population
allele count: 2
allele frequency: 1.926040061633282e-4
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.026e1

FS
type: SiteQuality
SIO_000300: 9.804e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.139e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

DP
type: SiteQuality
SIO_000300: 2.289182e6

VQSLOD
type: SiteQuality
SIO_000300: -7.386e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

GenotypeQuality
all individuals: 3729
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4247
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
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: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.379e0

QD
type: SiteQuality
SIO_000300: 1.213e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.662e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 2.289162e6

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 4160
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2289
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
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: 8648
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

FS
type: SiteQuality
SIO_000300: 9.429999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 2.28911e6

QD
type: SiteQuality
SIO_000300: 1.428e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

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

GenotypeQuality
all individuals: 14989
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4162
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.237e1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 1.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 2.289016e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

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

GenotypeQuality
all individuals: 14989
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22648
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4251
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

DP
type: SiteQuality
SIO_000300: 2.289016e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

FS
type: SiteQuality
SIO_000300: 1.091e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14779
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22955
bin: 9.75e1
variant carriers: 600

GenotypeQuality
all individuals: 4200
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 4
allele frequency: 4.415011037527594e-3
allele num: 906
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: 534
allele frequency: 5.156431054461182e-2
allele num: 10356
num of homozygotes: 13

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 58
allele frequency: 5.019037729318103e-3
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.699460107978405e-4
allele num: 66680
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

FS
type: SiteQuality
SIO_000300: 2.886e0

DP
type: SiteQuality
SIO_000300: 2.307835e6

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.348e1

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

GenotypeQuality
all individuals: 4144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 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: 906
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

DP
type: SiteQuality
SIO_000300: 2.288403e6

QD
type: SiteQuality
SIO_000300: 1.316e1

VQSLOD
type: SiteQuality
SIO_000300: -1.491e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.766e0

FS
type: SiteQuality
SIO_000300: 1.2013e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.45e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5388
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14048
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22554
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 8642
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

FS
type: SiteQuality
SIO_000300: 9.673e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

QD
type: SiteQuality
SIO_000300: 2.143e1

DP
type: SiteQuality
SIO_000300: 2.282445e6

VQSLOD
type: SiteQuality
SIO_000300: -1.267e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 572
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
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GenotypeQuality
all individuals: 22552
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2746
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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: 6602
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.271e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.27591e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.091e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

QD
type: SiteQuality
SIO_000300: 5.81e0

GenotypeQuality
all individuals: 22553
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2286
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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: 16466
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: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.984e0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.124e1

DP
type: SiteQuality
SIO_000300: 2.274932e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 36

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 33

GenotypeQuality
all individuals: 154
bin: 3.75e1
variant carriers: 126

South Asian
type: Population
allele count: 12540
allele frequency: 7.617543433361681e-1
allele num: 16462
num of homozygotes: 4801

African
type: Population
allele count: 5084
allele frequency: 4.96969696969697e-1
allele num: 10230
num of homozygotes: 1247

East Asian
type: Population
allele count: 7889
allele frequency: 9.130787037037037e-1
allele num: 8640
num of homozygotes: 3594

European (Finnish)
type: Population
allele count: 5482
allele frequency: 8.306060606060606e-1
allele num: 6600
num of homozygotes: 2269

Latino
type: Population
allele count: 9022
allele frequency: 7.828878861506421e-1
allele num: 11524
num of homozygotes: 3541

European (Non-Finnish)
type: Population
allele count: 53949
allele frequency: 8.110924015996632e-1
allele num: 66514
num of homozygotes: 21904

Other
type: Population
allele count: 731
allele frequency: 8.068432671081678e-1
allele num: 906
num of homozygotes: 293

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

DP
type: SiteQuality
SIO_000300: 2.909465e6

QD
type: SiteQuality
SIO_000300: 2.661e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.53e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.465e0

GenotypeQuality
all individuals: 738
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
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: 3
allele frequency: 1.886317907444668e-4
allele num: 15904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.052409877598364e-5
allele num: 65522
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.413e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.732e0

FS
type: SiteQuality
SIO_000300: 3.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.188e0

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.68e-1

DP
type: SiteQuality
SIO_000300: 1.792263e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 2053
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.150061500615006e-4
allele num: 11382
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65408
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.774082e6

FS
type: SiteQuality
SIO_000300: 4.487e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

QD
type: SiteQuality
SIO_000300: 1.473e1

GenotypeQuality
all individuals: 508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22897
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.033484911120298e-4
allele num: 9676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550339524355834e-5
allele num: 64502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.307e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.04e-1

FS
type: SiteQuality
SIO_000300: 5.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.446e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.182e1

DP
type: SiteQuality
SIO_000300: 1.567314e6

GenotypeQuality
all individuals: 3444
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5823
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.603112840466926e-4
allele num: 64250
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.66998932004272e-4
allele num: 11236
num of homozygotes: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15360
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.027e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

DP
type: SiteQuality
SIO_000300: 1.542464e6

GenotypeQuality
all individuals: 1002
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2440
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6656
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.581545346847439e-5
allele num: 15194
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.879e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 1.471588e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

QD
type: SiteQuality
SIO_000300: 1.52e1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1422
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.946144211844694e-5
allele num: 11178
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15194
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

QD
type: SiteQuality
SIO_000300: 1.52e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

DP
type: SiteQuality
SIO_000300: 1.471588e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.879e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3248
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3976
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.575994452499527e-5
allele num: 63452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15100
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.874e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 3.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

DP
type: SiteQuality
SIO_000300: 1.453963e6

GenotypeQuality
all individuals: 3745
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3988
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 386
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.205128205128205e-4
allele num: 9360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62252
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 9.82e0

DP
type: SiteQuality
SIO_000300: 1.409303e6

GenotypeQuality
all individuals: 967
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7240
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10892
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.064573309698658e-4
allele num: 7898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61388
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.032e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.403704e6

VQSLOD
type: SiteQuality
SIO_000300: -1.614e-1

QD
type: SiteQuality
SIO_000300: 1.63e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

GenotypeQuality
all individuals: 7546
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2856
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.175153683824204e-5
allele num: 65394
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.815469179426777e-5
allele num: 10188
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.86e-1

DP
type: SiteQuality
SIO_000300: 1.751286e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.3e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

GenotypeQuality
all individuals: 3846
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65394
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.178689297501179e-4
allele num: 8484
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.751286e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.289e0

QD
type: SiteQuality
SIO_000300: 1.3e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.86e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele count: 4
allele frequency: 2.483854942871336e-4
allele num: 16104
num of homozygotes: 2

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65422
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.782715615668365e-5
allele num: 11386
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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MQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.297e0

GenotypeQuality
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GenotypeQuality
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variant carriers: 16

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.102770657878677e-5
allele num: 65544
num of homozygotes: 0

Latino
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allele frequency: 6.124234470691164e-4
allele num: 11430
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
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East Asian
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allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
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African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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South Asian
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allele count: 6
allele frequency: 3.727171077152441e-4
allele num: 16098
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 1.759804e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 7.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65612
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East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.181998021760633e-5
allele num: 16176
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 896
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MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.186e-1

DP
type: SiteQuality
SIO_000300: 1.764177e6

QD
type: SiteQuality
SIO_000300: 7.52e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511944360447535e-5
allele num: 66140
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 6.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

DP
type: SiteQuality
SIO_000300: 1.833978e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.017e1

VQSLOD
type: SiteQuality
SIO_000300: -6.441e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e0

MQ
type: SiteQuality
SIO_000300: 5.877e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

DP
type: SiteQuality
SIO_000300: 1.846576e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

FS
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-2

GenotypeQuality
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variant carriers: 0

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: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

DP
type: SiteQuality
SIO_000300: 1.860048e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.937e1

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: 4

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

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

South Asian
type: Population
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allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
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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: 66716
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.07e0

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

East Asian
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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: 66718
num of homozygotes: 0

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

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

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

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

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

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

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

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

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

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

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

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

African
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 3

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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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

Latino
type: Population
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
type: Population
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allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

South Asian
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
all individuals: 1256
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1650
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variant carriers: 0

Latino
type: Population
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 7.772e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.898e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.535e-1

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.149e0

QD
type: SiteQuality
SIO_000300: 1.647e1

GenotypeQuality
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variant carriers: 1

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

Other
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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: 11574
num of homozygotes: 0

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

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

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

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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.392e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.079e0

QD
type: SiteQuality
SIO_000300: 1.278e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.861045e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

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

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

DP
type: SiteQuality
SIO_000300: 1.861245e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.879e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

East Asian
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: 16512
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: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 5.022e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.621e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.861513e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.621e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 5.022e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.861513e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7560
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GenotypeQuality
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bin: 8.25e1
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: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.861643e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.216e1

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.947e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.635e0

VQSLOD
type: SiteQuality
SIO_000300: -1.056e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

FS
type: SiteQuality
SIO_000300: 3.286e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.988e1

DP
type: SiteQuality
SIO_000300: 1.861632e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

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

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

Other
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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: 6610
num of homozygotes: 0

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

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

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
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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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
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: 204
allele frequency: 1.96078431372549e-2
allele num: 10404
num of homozygotes: 5

European (Finnish)
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allele count: 0
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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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: 4.319281271596407e-4
allele num: 11576
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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South Asian
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allele num: 16512
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

East Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.866002e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

QD
type: SiteQuality
SIO_000300: 1.298e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

DP
type: SiteQuality
SIO_000300: 1.866083e6

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.301e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

QD
type: SiteQuality
SIO_000300: 9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 51
allele frequency: 7.705789919013659e-4
allele num: 66184
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.172103926548154e-3
allele num: 10238
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.325942350332594e-3
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.856435643564356e-3
allele num: 6464
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.633920296570899e-4
allele num: 8632
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.449e2

FS
type: SiteQuality
SIO_000300: 2.23857e2

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

DP
type: SiteQuality
SIO_000300: 1.948198e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.037e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.904e0

GenotypeQuality
all individuals: 32146
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2984
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3942
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 3.892e0

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.894e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.629e0

QD
type: SiteQuality
SIO_000300: 9.69e0

DP
type: SiteQuality
SIO_000300: 1.857571e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

GenotypeQuality
all individuals: 32146
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3942
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 1.857579e6

VQSLOD
type: SiteQuality
SIO_000300: -5.76e-2

QD
type: SiteQuality
SIO_000300: 1.359e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.827e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.849e0

FS
type: SiteQuality
SIO_000300: 6.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

GenotypeQuality
all individuals: 32146
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3942
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.908e1

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: -1.387e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
type: SiteQuality
SIO_000300: 1.857564e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-1

GenotypeQuality
all individuals: 1674
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2984
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.865e1

QD
type: SiteQuality
SIO_000300: 1.325e1

VQSLOD
type: SiteQuality
SIO_000300: -1.019e0

FS
type: SiteQuality
SIO_000300: 1.561e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.147e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.857499e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

GenotypeQuality
all individuals: 2984
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3941
bin: 7.75e1
variant carriers: 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: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
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: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.857527e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.635e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.382e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.095e1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 1674
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8753
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1268
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.857457e6

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.158e-1

QD
type: SiteQuality
SIO_000300: 1.406e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 8752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7234
bin: 9.75e1
variant carriers: 2

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: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.013e1

VQSLOD
type: SiteQuality
SIO_000300: -4.15e-2

DP
type: SiteQuality
SIO_000300: 1.857534e6

FS
type: SiteQuality
SIO_000300: 5.772e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.496e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.04e1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2983
bin: 7.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.85739e6

FS
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.244e0

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.147e1