1-29533389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533389
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533389
    reference: chr 1
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.187C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.435C>T
  hgvsp: ENST00000263702.6:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.528C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.761C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.54C>T
  hgvsp: ENST00000463412.1:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.423C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.637C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.207C>T
  hgvsp: ENST00000373791.3:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.334C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.762C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser145Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

1-29533396-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533396
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533396
    reference: chr 1
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.630T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.47T>C
  hgvsp: ENSP00000436831.1:p.Val16Ala
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.180T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.200T>C
  hgvsp: ENSP00000362896.3:p.Val67Ala
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.416T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.327T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.428T>C
  hgvsp: ENSP00000263702.6:p.Val143Ala
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.754T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.755T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.521T>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val143Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

1-29533400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533400
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533400
    reference: chr 1
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.323G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.517G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.424G>A
  hgvsp: ENSP00000263702.6:p.Ala142Thr
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.196G>A
  hgvsp: ENSP00000362896.3:p.Ala66Thr
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.750G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.412G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.751G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.176G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.43G>A
  hgvsp: ENSP00000436831.1:p.Ala15Thr
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.626G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala142Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

1-29533402-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533402
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533402
    reference: chr 1
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.422A>C
  hgvsp: ENSP00000263702.6:p.Glu141Ala
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.321A>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.749A>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.410A>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.194A>C
  hgvsp: ENSP00000362896.3:p.Glu65Ala
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.515A>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.748A>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.41A>C
  hgvsp: ENSP00000436831.1:p.Glu14Ala
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.624A>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.174A>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu141Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-29533403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533403
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533403
    reference: chr 1
allele count: 9
allele frequency: 7.429665830141328e-5
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.748G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.514G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.747G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.421G>A
  hgvsp: ENSP00000263702.6:p.Glu141Lys
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.40G>A
  hgvsp: ENSP00000436831.1:p.Glu14Lys
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.320G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.173G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.409G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.193G>A
  hgvsp: ENSP00000362896.3:p.Glu65Lys
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.623G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu141Lys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-29533404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533404
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533404
    reference: chr 1
allele count: 18
allele frequency: 1.486669529882058e-4
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.319C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.420C>T
  hgvsp: ENST00000263702.6:c.420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.39C>T
  hgvsp: ENST00000463412.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.746C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.192C>T
  hgvsp: ENST00000373791.3:c.192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.513C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.172C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.747C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.408C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.622C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr140Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-29533408-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533408
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533408
    reference: chr 1
allele count: 6
allele frequency: 4.957612413861484e-5
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.188G>A
  hgvsp: ENSP00000362896.3:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.35G>A
  hgvsp: ENSP00000436831.1:p.Arg12Gln
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.743G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.315G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.509G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.416G>A
  hgvsp: ENSP00000263702.6:p.Arg139Gln
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.404G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.168G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.742G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.618G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg139Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/1-29533417-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533417
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533417
    reference: chr 1
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.26G>T
  hgvsp: ENSP00000436831.1:p.Gly9Val
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.500G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.733G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.159G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.395G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.734G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.407G>T
  hgvsp: ENSP00000263702.6:p.Gly136Val
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.179G>T
  hgvsp: ENSP00000362896.3:p.Gly60Val
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.306G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.609G>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly136Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

1-29533417-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533417
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533417
    reference: chr 1
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.159G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.306G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.734G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.395G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.26G>A
  hgvsp: ENSP00000436831.1:p.Gly9Glu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.179G>A
  hgvsp: ENSP00000362896.3:p.Gly60Glu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.500G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.407G>A
  hgvsp: ENSP00000263702.6:p.Gly136Glu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.733G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.609G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly136Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

1-29533428-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533428
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533428
    reference: chr 1
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.306-11T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.407-11T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.395-11T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.26-11T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.734-11T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.159-11T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.609-11T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.733-11T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.500-11T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.179-11T>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

1-29533432-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533432
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533432
    reference: chr 1
allele count: 2
allele frequency: 1.66461364317342e-5
allele num: 120148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.407-15C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.395-15C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.26-15C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.733-15C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.609-15C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.500-15C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.734-15C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.179-15C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.306-15C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.159-15C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22450
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

1-29533439-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533439
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533439
    reference: chr 1
allele count: 1
allele frequency: 8.350730688935283e-6
allele num: 119750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.733-22C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.159-22C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.734-22C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.26-22C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.395-22C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.609-22C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.179-22C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.306-22C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.500-22C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.407-22C>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

1-29533444-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533444
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533444
    reference: chr 1
allele count: 12
allele frequency: 1.003428380299356e-4
allele num: 119590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.179-27T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.395-27T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.306-27T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.26-27T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.734-27T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.159-27T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.733-27T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.500-27T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.407-27T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.609-27T>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8968
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13818
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-29533456-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533456
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533456
    reference: chr 1
allele count: 4
allele frequency: 3.3679672633582e-5
allele num: 118766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.500-39G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.609-39G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.407-39G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.159-39G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.306-39G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.179-39G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.734-39G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.395-39G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.26-39G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.733-39G>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9855
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-29533463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533463
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533463
    reference: chr 1
allele count: 1
allele frequency: 8.49285750683675e-6
allele num: 117746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.733-46G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.159-46G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.609-46G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.306-46G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.179-46G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.26-46G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.734-46G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.407-46G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.500-46G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.395-46G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

1-29533467-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29533467
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29533467
    reference: chr 1
allele count: 1
allele frequency: 8.516581784734879e-6
allele num: 117418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.500-50A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.26-50A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.159-50A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.179-50A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.306-50A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.407-50A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.395-50A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.734-50A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.609-50A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.733-50A>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18071
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-29542470-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542470
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542470
    reference: chr 1
allele count: 2
allele frequency: 1.669309740422335e-5
allele num: 119810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.178+47A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.733+47A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.25+47A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.305+47A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.158+47A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.406+47A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.394+47A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.732+47A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.608+47A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.499+47A>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

1-29542479-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542479
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542479
    reference: chr 1
allele count: 3
allele frequency: 2.50300360432519e-5
allele num: 119856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.733+38C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.25+38C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.158+38C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.305+38C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.406+38C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.608+38C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.394+38C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.732+38C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.178+38C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.499+38C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

1-29542480-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542480
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542480
    reference: chr 1
allele count: 4
allele frequency: 3.337505214851898e-5
allele num: 119850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.25+37T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.608+37T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.732+37T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.305+37T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.733+37T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.158+37T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.394+37T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.499+37T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.178+37T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.406+37T>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47872
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-29542485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542485
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542485
    reference: chr 1
allele count: 180
allele frequency: 1.502153086090062e-3
allele num: 119828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.305+32G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.608+32G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.733+32G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.732+32G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.178+32G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.499+32G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.394+32G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.406+32G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.158+32G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.25+32G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

1-29542486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542486
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542486
    reference: chr 1
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.394+31C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.732+31C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.305+31C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.608+31C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.25+31C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.733+31C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.158+31C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.178+31C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.499+31C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.406+31C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-29542493-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542493
    reference: chr 1
allele count: 14
allele frequency: 1.166239045683249e-4
allele num: 120044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.25+24G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.608+24G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.406+24G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.733+24G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.394+24G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.178+24G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.499+24G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.305+24G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.158+24G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.732+24G>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5439
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-29542504-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542504
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542504
    reference: chr 1
allele count: 57
allele frequency: 4.727857865662481e-4
allele num: 120562
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.406+13A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.178+13A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.394+13A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.608+13A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.158+13A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.25+13A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.733+13A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.499+13A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.732+13A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.305+13A>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

1-29542505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542505
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542505
    reference: chr 1
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.499+12C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.178+12C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.305+12C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.25+12C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.394+12C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.158+12C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.732+12C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.608+12C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.406+12C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.733+12C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-29542511-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542511
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542511
    reference: chr 1
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.158+6T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.25+6T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.733+6T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.608+6T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.406+6T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.499+6T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.305+6T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.732+6T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.178+6T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.394+6T>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
hgvs: c.406+6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-29542523-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542523
    reference: chr 1
allele count: 3
allele frequency: 2.474716644944154e-5
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.172G>T
  hgvsp: ENSP00000362896.3:p.Gly58Cys
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.152G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.299G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.602G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.19G>T
  hgvsp: ENSP00000436831.1:p.Gly7Cys
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.493G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.388G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.727G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.400G>T
  hgvsp: ENSP00000263702.6:p.Gly134Cys
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.726G>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly134Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

1-29542523-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542523
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542523
    reference: chr 1
allele count: 2
allele frequency: 1.649811096629436e-5
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.152G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.493G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.727G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.172G>C
  hgvsp: ENSP00000362896.3:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.400G>C
  hgvsp: ENSP00000263702.6:p.Gly134Arg
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.726G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.388G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.19G>C
  hgvsp: ENSP00000436831.1:p.Gly7Arg
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.602G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.299G>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly134Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

1-29542533-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542533
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542533
    reference: chr 1
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.390A>G
  hgvsp: ENST00000263702.6:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.592A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.9A>G
  hgvsp: ENST00000463412.1:c.9A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.142A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.716A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.378A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.162A>G
  hgvsp: ENST00000373791.3:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.289A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.483A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.717A>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro130Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/1-29542541-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542541
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542541
    reference: chr 1
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.370G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.134G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000436831
  ensembl transcript: ENST00000463412
  gene symbol: MECR
  hgvsc: ENST00000463412.1:c.1G>T
  hgvsp: ENSP00000436831.1:p.Val1?
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.475G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.154G>T
  hgvsp: ENSP00000362896.3:p.Val52Leu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.584G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.382G>T
  hgvsp: ENSP00000263702.6:p.Val128Leu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.708G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.709G>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.281G>T
  variant of: http://identifiers.org/hgnc/19691
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47968
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Val1?
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-29542553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542553
    reference: chr 1
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.688C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.696C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.358C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.269C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.142C>T
  hgvsp: ENSP00000362896.3:p.Pro48Ser
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.572C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.122C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.370C>T
  hgvsp: ENSP00000263702.6:p.Pro124Ser
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.463C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.697C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro124Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-29542560-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542560
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542560
    reference: chr 1
allele count: 21
allele frequency: 1.729932779754844e-4
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.363G>A
  hgvsp: ENST00000263702.6:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.689G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.456G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.262G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.135G>A
  hgvsp: ENST00000373791.3:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.115G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.351G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.681G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.565G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.690G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly121Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

1-29542562-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542562
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542562
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.563G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.361G>C
  hgvsp: ENSP00000263702.6:p.Gly121Arg
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.133G>C
  hgvsp: ENSP00000362896.3:p.Gly45Arg
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.688G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.454G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.349G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.260G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.679G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.113G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.687G>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly121Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-29542564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542564
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.685C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.258C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.359C>T
  hgvsp: ENSP00000263702.6:p.Thr120Ile
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.111C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.347C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.131C>T
  hgvsp: ENSP00000362896.3:p.Thr44Ile
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.561C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.686C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.677C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.452C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr120Ile
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-29542567-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542567
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.255T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.449T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.682T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.128T>A
  hgvsp: ENSP00000362896.3:p.Val43Glu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.683T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.674T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.558T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.344T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.356T>A
  hgvsp: ENSP00000263702.6:p.Val119Glu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.108T>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47979
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val119Glu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-29542570-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542570
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.555A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.353A>G
  hgvsp: ENSP00000263702.6:p.Asn118Ser
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.446A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.252A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.105A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.679A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.341A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.125A>G
  hgvsp: ENSP00000362896.3:p.Asn42Ser
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.671A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.680A>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn118Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

1-29542573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542573
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542573
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.350G>A
  hgvsp: ENSP00000263702.6:p.Ser117Asn
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.676G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.122G>A
  hgvsp: ENSP00000362896.3:p.Ser41Asn
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.102G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.552G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.443G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.338G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.668G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.249G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.677G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser117Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-29542581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542581
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542581
    reference: chr 1
allele count: 12
allele frequency: 9.884678747940691e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.342G>A
  hgvsp: ENST00000263702.6:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.669G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.668G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.435G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.94G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.330G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.660G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.114G>A
  hgvsp: ENST00000373791.3:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.241G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.544G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6454
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  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
hgvs: p.Ala114Ala
num of homozygotes: 1
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

1-29542582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542582
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542582
    reference: chr 1
allele count: 27
allele frequency: 2.22401607881254e-4
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.113C>T
  hgvsp: ENSP00000362896.3:p.Ala38Val
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.329C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.659C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.543C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.667C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.240C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.668C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.434C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.93C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.341C>T
  hgvsp: ENSP00000263702.6:p.Ala114Val
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala114Val
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-29542604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542604
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542604
    reference: chr 1
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.319G>A
  hgvsp: ENSP00000263702.6:p.Glu107Lys
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.71G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.307G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.637G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.646G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.91G>A
  hgvsp: ENSP00000362896.3:p.Glu31Lys
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.218G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.412G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.645G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.521G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu107Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-29542605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542605
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542605
    reference: chr 1
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.636C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.70C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.318C>T
  hgvsp: ENST00000263702.6:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.570C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.217C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.520C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.306C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.90C>T
  hgvsp: ENST00000373791.3:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.645C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.411C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.644C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn106Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-29542636-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542636
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542636
    reference: chr 1
allele count: 25
allele frequency: 2.05917237743806e-4
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.489T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.539T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.287T>C
  hgvsp: ENSP00000263702.6:p.Phe96Ser
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.39T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.59T>C
  hgvsp: ENSP00000362896.3:p.Phe20Ser
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.613T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.605T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.275T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.186T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.380T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.614T>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe96Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

1-29542637-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542637
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542637
    reference: chr 1
allele count: 99144
allele frequency: 8.168067226890756e-1
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.613T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.379T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.58T>C
  hgvsp: ENSP00000362896.3:p.Phe20Leu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.488T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.274T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.38T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.286T>C
  hgvsp: ENSP00000263702.6:p.Phe96Leu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.604T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.612T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.538T>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.185T>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.25e1
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 1105
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 7.25e1
  variant carriers: 2591
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.75e1
  variant carriers: 2091
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.75e1
  variant carriers: 1512
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 558
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 8.75e1
  variant carriers: 3446
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 7.75e1
  variant carriers: 2958
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 9.25e1
  variant carriers: 3513
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 5.25e1
  variant carriers: 1266
genotype depth: GenotypeDepth
  all individuals: 32416
  bin: 9.75e1
  variant carriers: 32381
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 8.25e1
  variant carriers: 3212
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.25e1
  variant carriers: 1897
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 814
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 19
hgvs: p.Phe96Leu
num of homozygotes: 41020
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-29542638-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542638
    reference: chr 1
allele count: 18
allele frequency: 1.483459427384661e-4
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.37A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.57A>T
  hgvsp: ENST00000373791.3:c.57A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.378A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.612A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.487A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.273A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.537A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.611A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.285A>T
  hgvsp: ENST00000263702.6:c.285A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.184A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.603A>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly95Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

1-29542640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542640
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542640
    reference: chr 1
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.283G>A
  hgvsp: ENSP00000263702.6:p.Gly95Arg
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.182G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.55G>A
  hgvsp: ENSP00000362896.3:p.Gly19Arg
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.485G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.601G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.535G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.35G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.609G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.271G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.610G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.376G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly95Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-29542641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542641
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542641
    reference: chr 1
allele count: 22
allele frequency: 1.813326299825261e-4
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.609C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.282C>T
  hgvsp: ENST00000263702.6:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.534C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.270C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.181C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.34C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.375C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.484C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.608C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.54C>T
  hgvsp: ENST00000373791.3:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.600C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr94Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-29542655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542655
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542655
    reference: chr 1
allele count: 2167
allele frequency: 1.787835786416738e-2
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.602-7C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.527-7C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.601-7C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.174-7C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.477-7C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.47-7C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.368-7C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.27-7C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.593-7C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.263-7C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.275-7C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 4.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 5.75e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 11520
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 8.75e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 3.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 6.25e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 4.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 6.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 547
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.25e1
  variant carriers: 114
genotype quality: GenotypeQuality
hgvs: c.275-7C>T
num of homozygotes: 26
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-29542677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542677
    reference: chr 1
allele count: 1789
allele frequency: 1.479417164216132e-2
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.602-29G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.368-29G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.174-29G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.593-29G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.27-29G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.47-29G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.275-29G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.527-29G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.477-29G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.601-29G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.263-29G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 11020
  bin: 3.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 9423
  bin: 3.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.75e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 2.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 4.75e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 8.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 5.75e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 4.25e1
  variant carriers: 188
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 17
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-29542678-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542678
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542678
    reference: chr 1
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.602-30G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.47-30G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.527-30G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.601-30G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.593-30G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.275-30G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.477-30G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.263-30G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.174-30G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.27-30G>C
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.368-30G>C
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

1-29542680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542680
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542680
    reference: chr 1
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.263-32C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.527-32C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.368-32C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.174-32C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.601-32C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.275-32C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.593-32C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.47-32C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.477-32C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.602-32C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.27-32C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5294
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

1-29542696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542696
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542696
    reference: chr 1
allele count: 5
allele frequency: 4.150548702538475e-5
allele num: 120466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.47-48C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.368-48C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.601-48C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.527-48C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.275-48C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.174-48C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.27-48C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.602-48C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.477-48C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.593-48C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.263-48C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9527
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-29542696-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29542696
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29542696
    reference: chr 1
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.601-48C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.527-48C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.27-48C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.174-48C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.602-48C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.47-48C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.368-48C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.477-48C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.263-48C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.275-48C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.593-48C>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

1-29543050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543050
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543050
    reference: chr 1
allele count: 2
allele frequency: 1.648804616652927e-5
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.173+50C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.274+50C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.600+50C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.46+50C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.476+50C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.262+50C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.26+50C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.601+50C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.367+50C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.526+50C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.592+50C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

1-29543056-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543056
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543056
    reference: chr 1
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.476+44C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.526+44C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.173+44C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.592+44C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.600+44C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.601+44C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.46+44C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.367+44C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.262+44C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.26+44C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.274+44C>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-29543070-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543070
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543070
    reference: chr 1
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.601+30T>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.46+30T>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.526+30T>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.262+30T>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.26+30T>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.476+30T>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.367+30T>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.274+30T>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.592+30T>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.600+30T>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.173+30T>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

1-29543080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543080
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543080
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.26+20C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.592+20C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.600+20C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.601+20C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.476+20C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.262+20C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.46+20C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.173+20C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.367+20C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.274+20C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.526+20C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-29543081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543081
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543081
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.274+19G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.46+19G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.601+19G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.592+19G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.173+19G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.526+19G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.26+19G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.600+19G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.367+19G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.476+19G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.262+19G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

1-29543100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543100
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543100
    reference: chr 1
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.262G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.476G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.601G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.526G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.46G>A
  hgvsp: ENSP00000362896.3:p.Gly16Arg
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.367G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.173G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.600G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.592G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.274G>A
  hgvsp: ENSP00000263702.6:p.Gly92Arg
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.26G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly92Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-29543103-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543103
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543103
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.259C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.43C>G
  hgvsp: ENSP00000362896.3:p.Gln15Glu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.589C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.597C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.271C>G
  hgvsp: ENSP00000263702.6:p.Gln91Glu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.170C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.23C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.473C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.598C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.364C>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.523C>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47219
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln91Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-29543113-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543113
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543113
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.249A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.261A>G
  hgvsp: ENSP00000263702.6:p.Ile87Met
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.160A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.513A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.463A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.13A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.579A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.587A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.33A>G
  hgvsp: ENSP00000362896.3:p.Ile11Met
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.588A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.354A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000484012
  gene symbol: MECR
  hgvsc: ENST00000484012.1:n.598A>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile87Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

1-29543115-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543115
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543115
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.158A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.461A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.11A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.585A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.577A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.352A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.511A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.259A>T
  hgvsp: ENSP00000263702.6:p.Ile87Leu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.31A>T
  hgvsp: ENSP00000362896.3:p.Ile11Leu
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.247A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.586A>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000484012
  gene symbol: MECR
  hgvsc: ENST00000484012.1:n.596A>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile87Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-29543115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543115
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543115
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.577A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000473030
  gene symbol: MECR
  hgvsc: ENST00000473030.1:n.11A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.586A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.31A>G
  hgvsp: ENSP00000362896.3:p.Ile11Val
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.511A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.585A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.259A>G
  hgvsp: ENSP00000263702.6:p.Ile87Val
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.352A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.247A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.158A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.461A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000484012
  gene symbol: MECR
  hgvsc: ENST00000484012.1:n.596A>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile87Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

1-29543127-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543127
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543127
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.235A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.574A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.449A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.340A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.565A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.19A>G
  hgvsp: ENSP00000362896.3:p.Asn7Asp
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.573A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.499A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.247A>G
  hgvsp: ENSP00000263702.6:p.Asn83Asp
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.146A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000484012
  gene symbol: MECR
  hgvsc: ENST00000484012.1:n.584A>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn83Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

1-29543130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543130
    reference: chr 1
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.244A>G
  hgvsp: ENSP00000263702.6:p.Ile82Val
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.562A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.496A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.232A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.446A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.16A>G
  hgvsp: ENSP00000362896.3:p.Ile6Val
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.337A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.143A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.571A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000484012
  gene symbol: MECR
  hgvsc: ENST00000484012.1:n.581A>G
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.570A>G
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile82Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-29543131-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543131
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.231T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.445T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000484012
  gene symbol: MECR
  hgvsc: ENST00000484012.1:n.580T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.495T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.243T>A
  hgvsp: ENST00000263702.6:c.243T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.142T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.561T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.569T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.570T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.336T>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.15T>A
  hgvsp: ENST00000373791.3:c.15T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro81Pro
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: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-29543134-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543134
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543134
    reference: chr 1
allele count: 22
allele frequency: 1.812011992224821e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.228C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.567C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.240C>A
  hgvsp: ENST00000263702.6:c.240C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.139C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.558C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.442C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.566C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.333C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.492C>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.12C>A
  hgvsp: ENST00000373791.3:c.12C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000484012
  gene symbol: MECR
  hgvsc: ENST00000484012.1:n.577C>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: synonymous
filter: PASS
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: 3679
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala80Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-29543138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543138
    reference: chr 1
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.562C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.563C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.488C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.438C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.236C>T
  hgvsp: ENSP00000263702.6:p.Ala79Val
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.554C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.135C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.329C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000484012
  gene symbol: MECR
  hgvsc: ENST00000484012.1:n.573C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.8C>T
  hgvsp: ENSP00000362896.3:p.Ala3Val
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.224C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala79Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

1-29543153-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543153
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543153
    reference: chr 1
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.209G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.423G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.-8G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.473G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000484012
  gene symbol: MECR
  hgvsc: ENST00000484012.1:n.558G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.314G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.120G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.221G>A
  hgvsp: ENSP00000263702.6:p.Arg74His
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.548G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.539G>A
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.547G>A
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5618
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47216
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Arg74His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-29543154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543154
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 29543154
    reference: chr 1
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000362896
  ensembl transcript: ENST00000373791
  gene symbol: MECR
  hgvsc: ENST00000373791.3:c.-9C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000489248
  gene symbol: MECR
  hgvsc: ENST00000489248.1:n.546C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000474946
  gene symbol: MECR
  hgvsc: ENST00000474946.1:n.313C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000475861
  gene symbol: MECR
  hgvsc: ENST00000475861.2:n.422C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000482610
  gene symbol: MECR
  hgvsc: ENST00000482610.1:n.472C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116353
  ensembl protein: ENSP00000263702
  ensembl transcript: ENST00000263702
  gene symbol: MECR
  hgvsc: ENST00000263702.6:c.220C>T
  hgvsp: ENSP00000263702.6:p.Arg74Cys
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000484012
  gene symbol: MECR
  hgvsc: ENST00000484012.1:n.557C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000490529
  gene symbol: MECR
  hgvsc: ENST00000490529.1:n.208C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000463052
  gene symbol: MECR
  hgvsc: ENST00000463052.1:n.547C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000478505
  gene symbol: MECR
  hgvsc: ENST00000478505.2:n.119C>T
  variant of: http://identifiers.org/hgnc/19691
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116353
  ensembl transcript: ENST00000464915
  gene symbol: MECR
  hgvsc: ENST00000464915.1:n.538C>T
  variant of: http://identifiers.org/hgnc/19691
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg74Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-29543155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29543155
    reference: chr 1
allele count: 8
allele frequency: 6.589243060703402e-5
allele num: 121410
alternate allele: A
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Val73Val
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2912
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18131
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 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: 66676
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.124687e6

FS
type: SiteQuality
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QD
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VQSLOD
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SIO_000300: -2.238e-1

MQRankSum
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SIO_000300: 1.98e-1

BaseQRankSum
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SIO_000300: -2.827e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.087e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
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

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

FS
type: SiteQuality
SIO_000300: 1.039e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 0.0e0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

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

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

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

BaseQRankSum
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SIO_000300: -1.813e0

FS
type: SiteQuality
SIO_000300: 1.198e0

ClippingRankSum
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SIO_000300: -6.1e-1

InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
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: 8650
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
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: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.121159e6

MQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

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: 8650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.218323586744639e-4
allele num: 16416
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.732063858434314e-4
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
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SIO_000300: 2.02e0

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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SIO_000300: 3.1e0

DP
type: SiteQuality
SIO_000300: 2.120705e6

FS
type: SiteQuality
SIO_000300: 6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.253334935704843e-4
allele num: 66568
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.105751618024179e-5
allele num: 16378
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
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VQSLOD
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ClippingRankSum
type: SiteQuality
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MQ
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MQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 6.56e-1

InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

East Asian
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allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

South Asian
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allele frequency: 1.833740831295844e-4
allele num: 16360
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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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

DP
type: SiteQuality
SIO_000300: 2.117455e6

BaseQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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QD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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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)
type: Population
allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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FS
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QD
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MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 1392
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18099
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2186
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2826
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2413
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24269
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.655e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.1835e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

DP
type: SiteQuality
SIO_000300: 2.109449e6

QD
type: SiteQuality
SIO_000300: 1.146e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18085
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 280
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.231306081754735e-5
allele num: 16048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

FS
type: SiteQuality
SIO_000300: 5.938e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.088e1

DP
type: SiteQuality
SIO_000300: 2.084715e6

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

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
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variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18084
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.249375312343828e-4
allele num: 16008
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 2.078256e6

QD
type: SiteQuality
SIO_000300: 1.551e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.388e0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.66e-1

GenotypeQuality
all individuals: 383
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
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variant carriers: 0

GenotypeQuality
all individuals: 4975
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 2160
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

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

GenotypeQuality
all individuals: 2341
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variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18070
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19541
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

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: 6508
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65998
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 2.035856e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.023e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.362e0

QD
type: SiteQuality
SIO_000300: 1.819e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -4.937e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.055e0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17642
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variant carriers: 0

GenotypeQuality
all individuals: 4672
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 3525
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2155
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variant carriers: 0

GenotypeQuality
all individuals: 18080
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.819725827975252e-4
allele num: 65944
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 2.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

DP
type: SiteQuality
SIO_000300: 2.006178e6

GenotypeQuality
all individuals: 171
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4091
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3604
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
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variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
all individuals: 11919
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18068
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1369
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.480682213713888e-4
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.93304e6

FS
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.244e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.01e-1

GenotypeQuality
all individuals: 4155
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3818
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
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variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
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GenotypeQuality
all individuals: 2125
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variant carriers: 0

GenotypeQuality
all individuals: 282
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variant carriers: 0

GenotypeQuality
all individuals: 2362
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variant carriers: 0

GenotypeQuality
all individuals: 352
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GenotypeQuality
all individuals: 6805
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variant carriers: 0

GenotypeQuality
all individuals: 3407
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variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1693
bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535956747457992e-5
allele num: 65106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15082
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.895627e6

FS
type: SiteQuality
SIO_000300: 2.618e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 8.92e0

VQSLOD
type: SiteQuality
SIO_000300: 3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.745e0

MQRankSum
type: SiteQuality
SIO_000300: -4.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2574
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
all individuals: 713
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variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2333
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variant carriers: 0

GenotypeQuality
all individuals: 4038
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variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
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variant carriers: 0

GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 1661
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2245
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.657789613848202e-5
allele num: 15020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.887743e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.386e0

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15438
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509251713000694e-5
allele num: 66258
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.752e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

DP
type: SiteQuality
SIO_000300: 3.239094e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

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

African
type: Population
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allele frequency: 0.0e0
allele num: 10392
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: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.527345164795364e-5
allele num: 66264
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: 15482
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.243241e6

QD
type: SiteQuality
SIO_000300: 1.078e1

FS
type: SiteQuality
SIO_000300: 6.830000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.881e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 66266
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.584981258885873e-4
allele num: 15474
num of homozygotes: 0

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

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

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: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

DP
type: SiteQuality
SIO_000300: 3.243824e6

QD
type: SiteQuality
SIO_000300: 1.173e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 179

South Asian
type: Population
allele count: 3
allele frequency: 1.938986556359876e-4
allele num: 15472
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 162
allele frequency: 2.445356840961237e-3
allele num: 66248
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.780082987551867e-4
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.849114703618168e-4
allele num: 10392
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 3.203e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.31e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.405e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

DP
type: SiteQuality
SIO_000300: 3.249249e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509069507741527e-5
allele num: 66266
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: -1.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.14e-1

DP
type: SiteQuality
SIO_000300: 3.251453e6

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.659525677388208e-4
allele num: 66284
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.392227051904884e-5
allele num: 15644
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

DP
type: SiteQuality
SIO_000300: 3.258003e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.169e1

FS
type: SiteQuality
SIO_000300: 4.312e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3943
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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: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 50
allele frequency: 7.527853056308341e-4
allele num: 66420
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.273721e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 1.269e0

QD
type: SiteQuality
SIO_000300: 1.324e1

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 1300
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1199
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GenotypeQuality
all individuals: 4022
bin: 6.25e1
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: 6614
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.27523e6

MQ
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 3.378e0

ClippingRankSum
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SIO_000300: -1.052e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.559e0

ReadPosRankSum
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SIO_000300: 1.69e0

QD
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SIO_000300: 1.184e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.76e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.167509559639817e-5
allele num: 16214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

FS
type: SiteQuality
SIO_000300: 4.464e0

BaseQRankSum
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SIO_000300: 3.14e0

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66630
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: 10406
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
type: Population
allele count: 3
allele frequency: 1.824595547986863e-4
allele num: 16442
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.290462e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.163e0

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 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: 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
type: Population
allele count: 2
allele frequency: 1.216397031991242e-4
allele num: 16442
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

DP
type: SiteQuality
SIO_000300: 3.290462e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

BaseQRankSum
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SIO_000300: -2.163e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

QD
type: SiteQuality
SIO_000300: 1.188e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000030000300003e-5
allele num: 66666
num of homozygotes: 0

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

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

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

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

Latino
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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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

DP
type: SiteQuality
SIO_000300: 3.2932e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

FS
type: SiteQuality
SIO_000300: 1.2392e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999130252226854e-5
allele num: 66686
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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East Asian
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Other
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

QD
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MQRankSum
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 21
allele frequency: 1.813784764207981e-3
allele num: 11578
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

DP
type: SiteQuality
SIO_000300: 3.296285e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.301e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

GenotypeQuality
all individuals: 1481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 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: 906
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: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

DP
type: SiteQuality
SIO_000300: 3.296361e6

FS
type: SiteQuality
SIO_000300: 5.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: -9.29e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.382e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 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: 906
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e0

DP
type: SiteQuality
SIO_000300: 3.296406e6

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.543e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4648
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GenotypeQuality
all individuals: 1497
bin: 6.75e1
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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.296438e6

MQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

FS
type: SiteQuality
SIO_000300: 4.348e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.59e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1643
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variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.089e1

DP
type: SiteQuality
SIO_000300: 3.296532e6

FS
type: SiteQuality
SIO_000300: 3.255e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.775e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 7
allele frequency: 6.045949214026602e-4
allele num: 11578
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 3.297389e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.089999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.89e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: -1.017e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 27

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 21
allele frequency: 3.146916022298148e-4
allele num: 66732
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 8.637070305752289e-5
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 906
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 47989
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GenotypeQuality
all individuals: 6
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variant carriers: 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: 66736
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
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

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

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

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 3.298966e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

GenotypeQuality
all individuals: 1473
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1642
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1482
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4516
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48014
bin: 9.75e1
variant carriers: 25

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.746104051786142e-4
allele num: 66736
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.349e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

DP
type: SiteQuality
SIO_000300: 3.301121e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 589
bin: 6.25e1
variant carriers: 25

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 256
bin: 8.25e1
variant carriers: 53

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 6

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

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 105

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 55

GenotypeQuality
all individuals: 289
bin: 7.75e1
variant carriers: 60

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 9

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 273
bin: 6.75e1
variant carriers: 41

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 7.25e1
variant carriers: 31

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 14

GenotypeQuality
all individuals: 58591
bin: 9.75e1
variant carriers: 57676

South Asian
type: Population
allele count: 12199
allele frequency: 7.387960271317829e-1
allele num: 16512
num of homozygotes: 4529

East Asian
type: Population
allele count: 4893
allele frequency: 5.669756662804172e-1
allele num: 8630
num of homozygotes: 1374

Latino
type: Population
allele count: 8535
allele frequency: 7.374287195438051e-1
allele num: 11574
num of homozygotes: 3140

European (Non-Finnish)
type: Population
allele count: 59056
allele frequency: 8.849196835291298e-1
allele num: 66736
num of homozygotes: 26093

Other
type: Population
allele count: 745
allele frequency: 8.204845814977973e-1
allele num: 908
num of homozygotes: 303

African
type: Population
allele count: 7769
allele frequency: 7.465885066307899e-1
allele num: 10406
num of homozygotes: 2905

European (Finnish)
type: Population
allele count: 5947
allele frequency: 8.991533111581493e-1
allele num: 6614
num of homozygotes: 2676

QD
type: SiteQuality
SIO_000300: 2.977e1

DP
type: SiteQuality
SIO_000300: 6.19681e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.31e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
all individuals: 4664
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12006
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24583
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 2348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5651
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3903
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.799802021777604e-4
allele num: 66674
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: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
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: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.535069e6

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 1.37e1

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

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

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

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 93
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4516
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3903
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4666
bin: 7.75e1
variant carriers: 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: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

QD
type: SiteQuality
SIO_000300: 1.054e1

FS
type: SiteQuality
SIO_000300: 5.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.52e-1

DP
type: SiteQuality
SIO_000300: 2.533375e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.723e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4664
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2817
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24552
bin: 9.75e1
variant carriers: 22

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

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

GenotypeQuality
all individuals: 12016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3902
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49940004799616e-5
allele num: 66672
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.25e-3
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 3
allele frequency: 1.818181818181818e-4
allele num: 16500
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: 2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.287e0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

FS
type: SiteQuality
SIO_000300: 6.0e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.532346e6

QD
type: SiteQuality
SIO_000300: 1.427e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

GenotypeDepth
all individuals: 3861
bin: 5.25e1
variant carriers: 113

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4615
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3866
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4477
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2783
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24677
bin: 9.75e1
variant carriers: 2138

GenotypeQuality
all individuals: 2316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11772
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 1

African
type: Population
allele count: 397
allele frequency: 3.818776452481724e-2
allele num: 10396
num of homozygotes: 9

Latino
type: Population
allele count: 135
allele frequency: 1.166609056342897e-2
allele num: 11572
num of homozygotes: 2

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

European (Finnish)
type: Population
allele count: 32
allele frequency: 4.838221953432114e-3
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 14
allele frequency: 1.548672566371681e-2
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1470
allele frequency: 2.206610825902909e-2
allele num: 66618
num of homozygotes: 15

South Asian
type: Population
allele count: 118
allele frequency: 7.172380257719426e-3
allele num: 16452
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

FS
type: SiteQuality
SIO_000300: 7.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 2.520774e6

QD
type: SiteQuality
SIO_000300: 1.361e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.678e0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3879
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2308
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4456
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 24403
bin: 9.75e1
variant carriers: 1766

GenotypeQuality
all individuals: 589
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 489
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5229
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4560
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 10333
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2707
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 1

South Asian
type: Population
allele count: 120
allele frequency: 7.349338559529643e-3
allele num: 16328
num of homozygotes: 1

Other
type: Population
allele count: 14
allele frequency: 1.548672566371681e-2
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 122
allele frequency: 1.055363321799308e-2
allele num: 11560
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 1465
allele frequency: 2.203405125736975e-2
allele num: 66488
num of homozygotes: 15

African
type: Population
allele count: 35
allele frequency: 3.369921047564028e-3
allele num: 10386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 32
allele frequency: 4.839685420447671e-3
allele num: 6612
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 2.065e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e0

DP
type: SiteQuality
SIO_000300: 2.432326e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
all individuals: 820
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11560
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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South Asian
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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QD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66456
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Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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South Asian
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Other
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Latino
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African
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East Asian
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 6.213495712687958e-5
allele num: 16094
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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allele num: 8654
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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QD
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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African
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QD
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Latino
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Other
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European (Finnish)
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South Asian
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DP
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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FS
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ClippingRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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East Asian
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Other
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African
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South Asian
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European (Finnish)
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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Latino
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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QD
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DP
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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South Asian
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Latino
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European (Non-Finnish)
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Other
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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DP
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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African
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3597
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1829
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47223
bin: 9.75e1
variant carriers: 4

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

DP
type: SiteQuality
SIO_000300: 3.771402e6

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 2.457e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.34e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3593
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47222
bin: 9.75e1
variant carriers: 1

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.771123e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -4.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

FS
type: SiteQuality
SIO_000300: 2.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.456e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47222
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 1889
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1042
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3597
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 22
allele frequency: 1.900155467265504e-3
allele num: 11578
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: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.218e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.75e0

VQSLOD
type: SiteQuality
SIO_000300: 4.29e0

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

DP
type: SiteQuality
SIO_000300: 3.773383e6

GenotypeQuality
all individuals: 1888
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1087
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47216
bin: 9.75e1
variant carriers: 2

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

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

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

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

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2127
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
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

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

FS
type: SiteQuality
SIO_000300: 1.797e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
SIO_000300: 3.768861e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.692e0

QD
type: SiteQuality
SIO_000300: 1.252e1

GenotypeQuality
all individuals: 1091
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1041
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3596
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
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: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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

DP
type: SiteQuality
SIO_000300: 3.768958e6

MQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.325e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-1

FS
type: SiteQuality
SIO_000300: 1.174e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

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

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2128
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1041
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3595
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47215
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1834
bin: 7.75e1
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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.919e1

VQSLOD
type: SiteQuality
SIO_000300: -8.263e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 3.768226e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.172e0