16-57474668-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474668
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474668
    reference: chr 16
allele count: 5730
allele frequency: 4.902464065708419e-2
allele num: 116880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.157+16C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.632+16C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.157+16C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.157+16C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.162+16C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.157+16C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1461C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.157+16C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.224+16C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.157+16C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.157+16C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.157+16C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+197C>T
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 4.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 2.25e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 17356
  bin: 2.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.75e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 3.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 7.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 8.75e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 9.75e1
  variant carriers: 3292
genotype quality: GenotypeQuality
num of homozygotes: 180
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

16-57474687-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474687
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474687
    reference: chr 16
allele count: 5759
allele frequency: 4.840960290508053e-2
allele num: 118964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.154C>G
  hgvsp: ENSP00000455309.1:p.Gln52Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.221C>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.154C>G
  hgvsp: ENSP00000458000.1:p.Gln52Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.629C>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.154C>G
  hgvsp: ENSP00000457622.1:p.Gln52Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.159C>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.154C>G
  hgvsp: ENSP00000454480.1:p.Gln52Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.154C>G
  hgvsp: ENSP00000455572.1:p.Gln52Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.154C>G
  hgvsp: ENSP00000456114.1:p.Gln52Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.154C>G
  hgvsp: ENSP00000457042.1:p.Gln52Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.154C>G
  hgvsp: ENSP00000377914.4:p.Gln52Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1480C>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+178C>G
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.75e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 17799
  bin: 2.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 11770
  bin: 3.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.25e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 5.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 2.25e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 4.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 156
genotype quality: GenotypeQuality
hgvs: p.Gln52Glu
num of homozygotes: 179
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

16-57474688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474688
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474688
    reference: chr 16
allele count: 11
allele frequency: 9.237797709026169e-5
allele num: 119076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.153G>A
  hgvsp: ENST00000570000.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1481G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.153G>A
  hgvsp: ENST00000568940.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+177G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.628G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.153G>A
  hgvsp: ENST00000394391.4:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.153G>A
  hgvsp: ENST00000569979.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.153G>A
  hgvsp: ENST00000567518.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.153G>A
  hgvsp: ENST00000569370.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.220G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.158G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.153G>A
  hgvsp: ENST00000563341.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.153G>A
  hgvsp: ENST00000565961.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
hgvs: p.Leu51Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/16-57474689-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474689
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474689
    reference: chr 16
allele count: 1
allele frequency: 8.386166180269028e-6
allele num: 119244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+176T>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.152T>G
  hgvsp: ENSP00000455309.1:p.Leu51Trp
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.152T>G
  hgvsp: ENSP00000457042.1:p.Leu51Trp
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.627T>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.152T>G
  hgvsp: ENSP00000377914.4:p.Leu51Trp
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.152T>G
  hgvsp: ENSP00000457622.1:p.Leu51Trp
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.152T>G
  hgvsp: ENSP00000454480.1:p.Leu51Trp
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.157T>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.152T>G
  hgvsp: ENSP00000458000.1:p.Leu51Trp
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.152T>G
  hgvsp: ENSP00000456114.1:p.Leu51Trp
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1482T>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.152T>G
  hgvsp: ENSP00000455572.1:p.Leu51Trp
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.219T>G
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu51Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-57474693-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474693
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474693
    reference: chr 16
allele count: 1
allele frequency: 8.362182864214875e-6
allele num: 119586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.215C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+172C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.148C>A
  hgvsp: ENSP00000457622.1:p.Leu50Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.148C>A
  hgvsp: ENSP00000455309.1:p.Leu50Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.148C>A
  hgvsp: ENSP00000457042.1:p.Leu50Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.148C>A
  hgvsp: ENSP00000456114.1:p.Leu50Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.153C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.623C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.148C>A
  hgvsp: ENSP00000458000.1:p.Leu50Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.148C>A
  hgvsp: ENSP00000454480.1:p.Leu50Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.148C>A
  hgvsp: ENSP00000455572.1:p.Leu50Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1486C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.148C>A
  hgvsp: ENSP00000377914.4:p.Leu50Met
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu50Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

16-57474694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474694
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474694
    reference: chr 16
allele count: 1
allele frequency: 8.358268835358821e-6
allele num: 119642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.147G>A
  hgvsp: ENST00000568940.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.147G>A
  hgvsp: ENST00000565961.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.152G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.147G>A
  hgvsp: ENST00000570000.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.147G>A
  hgvsp: ENST00000569370.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.147G>A
  hgvsp: ENST00000563341.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.147G>A
  hgvsp: ENST00000569979.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.214G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1487G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.622G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.147G>A
  hgvsp: ENST00000567518.1:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+171G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.147G>A
  hgvsp: ENST00000394391.4:c.147G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln49Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

16-57474700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474700
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474700
    reference: chr 16
allele count: 1
allele frequency: 8.328058896032513e-6
allele num: 120076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.141C>T
  hgvsp: ENST00000569979.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.141C>T
  hgvsp: ENST00000570000.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.141C>T
  hgvsp: ENST00000394391.4:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1493C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.141C>T
  hgvsp: ENST00000565961.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.208C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.141C>T
  hgvsp: ENST00000567518.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.141C>T
  hgvsp: ENST00000569370.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.616C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.146C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.141C>T
  hgvsp: ENST00000563341.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+165C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.141C>T
  hgvsp: ENST00000568940.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile47Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

16-57474701-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474701
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474701
    reference: chr 16
allele count: 3
allele frequency: 2.497544081653041e-5
allele num: 120118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.145T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.140T>C
  hgvsp: ENSP00000455572.1:p.Ile47Thr
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.615T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.140T>C
  hgvsp: ENSP00000456114.1:p.Ile47Thr
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.140T>C
  hgvsp: ENSP00000454480.1:p.Ile47Thr
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.140T>C
  hgvsp: ENSP00000377914.4:p.Ile47Thr
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.140T>C
  hgvsp: ENSP00000457622.1:p.Ile47Thr
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.140T>C
  hgvsp: ENSP00000457042.1:p.Ile47Thr
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.207T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1494T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.140T>C
  hgvsp: ENSP00000458000.1:p.Ile47Thr
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.140T>C
  hgvsp: ENSP00000455309.1:p.Ile47Thr
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+164T>C
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile47Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

16-57474717-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474717
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474717
    reference: chr 16
allele count: 2
allele frequency: 1.659723490066555e-5
allele num: 120502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1510G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.124G>A
  hgvsp: ENSP00000458000.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.124G>A
  hgvsp: ENSP00000457042.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.599G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.191G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.124G>A
  hgvsp: ENSP00000456114.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.124G>A
  hgvsp: ENSP00000454480.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.124G>A
  hgvsp: ENSP00000455572.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.124G>A
  hgvsp: ENSP00000377914.4:p.Val42Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.124G>A
  hgvsp: ENSP00000455309.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.124G>A
  hgvsp: ENSP00000457622.1:p.Val42Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+148G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.129G>A
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val42Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

16-57474718-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474718
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474718
    reference: chr 16
allele count: 7
allele frequency: 5.80710457765758e-5
allele num: 120542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.123C>T
  hgvsp: ENST00000569370.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.123C>T
  hgvsp: ENST00000568940.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.123C>T
  hgvsp: ENST00000567518.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.123C>T
  hgvsp: ENST00000394391.4:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.123C>T
  hgvsp: ENST00000569979.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+147C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.123C>T
  hgvsp: ENST00000570000.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.598C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.128C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1511C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.123C>T
  hgvsp: ENST00000563341.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.123C>T
  hgvsp: ENST00000565961.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.190C>T
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg41Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

16-57474719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474719
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474719
    reference: chr 16
allele count: 14
allele frequency: 1.161401645872047e-4
allele num: 120544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.189G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.122G>A
  hgvsp: ENSP00000458000.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.122G>A
  hgvsp: ENSP00000454480.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.122G>A
  hgvsp: ENSP00000455309.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.597G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.122G>A
  hgvsp: ENSP00000457042.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+146G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1512G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.122G>A
  hgvsp: ENSP00000377914.4:p.Arg41His
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.122G>A
  hgvsp: ENSP00000456114.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.127G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.122G>A
  hgvsp: ENSP00000455572.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.122G>A
  hgvsp: ENSP00000457622.1:p.Arg41His
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg41His
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-57474720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474720
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474720
    reference: chr 16
allele count: 4
allele frequency: 3.317244696555041e-5
allele num: 120582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.121C>T
  hgvsp: ENSP00000456114.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.121C>T
  hgvsp: ENSP00000455572.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.126C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.121C>T
  hgvsp: ENSP00000454480.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.121C>T
  hgvsp: ENSP00000458000.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.596C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.121C>T
  hgvsp: ENSP00000455309.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.121C>T
  hgvsp: ENSP00000457622.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.188C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1513C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+145C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.121C>T
  hgvsp: ENSP00000377914.4:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.121C>T
  hgvsp: ENSP00000457042.1:p.Arg41Cys
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg41Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-57474722-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474722
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474722
    reference: chr 16
allele count: 1
allele frequency: 8.292974192264313e-6
allele num: 120584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.119G>C
  hgvsp: ENSP00000455309.1:p.Gly40Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.119G>C
  hgvsp: ENSP00000456114.1:p.Gly40Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.594G>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.119G>C
  hgvsp: ENSP00000457042.1:p.Gly40Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.124G>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.119G>C
  hgvsp: ENSP00000458000.1:p.Gly40Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.119G>C
  hgvsp: ENSP00000457622.1:p.Gly40Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+143G>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.119G>C
  hgvsp: ENSP00000454480.1:p.Gly40Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1515G>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.119G>C
  hgvsp: ENSP00000455572.1:p.Gly40Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.119G>C
  hgvsp: ENSP00000377914.4:p.Gly40Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.186G>C
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly40Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

16-57474730-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474730
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474730
    reference: chr 16
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.111C>A
  hgvsp: ENST00000563341.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.586C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.111C>A
  hgvsp: ENST00000567518.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.116C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.111C>A
  hgvsp: ENST00000394391.4:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.111C>A
  hgvsp: ENST00000569979.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.111C>A
  hgvsp: ENST00000570000.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.111C>A
  hgvsp: ENST00000568940.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.111C>A
  hgvsp: ENST00000565961.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.111C>A
  hgvsp: ENST00000569370.1:c.111C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.178C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1523C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+135C>A
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly37Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

16-57474732-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474732
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474732
    reference: chr 16
allele count: 6
allele frequency: 4.973639709539441e-5
allele num: 120636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.114G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.109G>A
  hgvsp: ENSP00000457042.1:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.109G>A
  hgvsp: ENSP00000458000.1:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.109G>A
  hgvsp: ENSP00000377914.4:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+133G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.109G>A
  hgvsp: ENSP00000455309.1:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.584G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.176G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.109G>A
  hgvsp: ENSP00000457622.1:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.109G>A
  hgvsp: ENSP00000456114.1:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.109G>A
  hgvsp: ENSP00000455572.1:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1525G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.109G>A
  hgvsp: ENSP00000454480.1:p.Gly37Ser
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly37Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-57474733-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474733
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474733
    reference: chr 16
allele count: 14
allele frequency: 1.160477453580902e-4
allele num: 120640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1526C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.175C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.108C>T
  hgvsp: ENST00000569979.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.108C>T
  hgvsp: ENST00000567518.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.108C>T
  hgvsp: ENST00000565961.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.108C>T
  hgvsp: ENST00000568940.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.583C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.108C>T
  hgvsp: ENST00000569370.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+132C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.113C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.108C>T
  hgvsp: ENST00000570000.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.108C>T
  hgvsp: ENST00000563341.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.108C>T
  hgvsp: ENST00000394391.4:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr36Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

16-57474734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474734
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474734
    reference: chr 16
allele count: 16
allele frequency: 1.326172004508985e-4
allele num: 120648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.107C>T
  hgvsp: ENSP00000458000.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1527C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.174C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.112C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.582C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.107C>T
  hgvsp: ENSP00000455572.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.107C>T
  hgvsp: ENSP00000457042.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.107C>T
  hgvsp: ENSP00000455309.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.107C>T
  hgvsp: ENSP00000456114.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.107C>T
  hgvsp: ENSP00000454480.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.107C>T
  hgvsp: ENSP00000377914.4:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.107C>T
  hgvsp: ENSP00000457622.1:p.Thr36Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+131C>T
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20202
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr36Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

16-57474738-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474738
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474738
    reference: chr 16
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.103T>C
  hgvsp: ENST00000569979.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+127T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.103T>C
  hgvsp: ENST00000563341.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.108T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.103T>C
  hgvsp: ENST00000570000.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.578T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.103T>C
  hgvsp: ENST00000568940.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.103T>C
  hgvsp: ENST00000565961.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.170T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.103T>C
  hgvsp: ENST00000569370.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.103T>C
  hgvsp: ENST00000567518.1:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.103T>C
  hgvsp: ENST00000394391.4:c.103T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1531T>C
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu35Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

16-57474739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474739
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474739
    reference: chr 16
allele count: 27
allele frequency: 2.237433084177205e-4
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.577G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.102G>A
  hgvsp: ENST00000568940.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.102G>A
  hgvsp: ENST00000563341.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.102G>A
  hgvsp: ENST00000569370.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.107G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1532G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.102G>A
  hgvsp: ENST00000567518.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.169G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.102G>A
  hgvsp: ENST00000570000.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.102G>A
  hgvsp: ENST00000565961.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.102G>A
  hgvsp: ENST00000569979.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+126G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.102G>A
  hgvsp: ENST00000394391.4:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala34Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

16-57474740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474740
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474740
    reference: chr 16
allele count: 2
allele frequency: 1.657302905251993e-5
allele num: 120678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1533C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.101C>T
  hgvsp: ENSP00000454480.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.101C>T
  hgvsp: ENSP00000457042.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.168C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.576C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.101C>T
  hgvsp: ENSP00000458000.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.101C>T
  hgvsp: ENSP00000456114.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.101C>T
  hgvsp: ENSP00000457622.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.101C>T
  hgvsp: ENSP00000377914.4:p.Ala34Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.106C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.101C>T
  hgvsp: ENSP00000455572.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.101C>T
  hgvsp: ENSP00000455309.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+125C>T
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala34Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

16-57474740-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474740
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474740
    reference: chr 16
allele count: 476
allele frequency: 3.944380914499743e-3
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+125C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.168C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.101C>A
  hgvsp: ENSP00000458000.1:p.Ala34Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.106C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1533C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.101C>A
  hgvsp: ENSP00000454480.1:p.Ala34Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.101C>A
  hgvsp: ENSP00000455309.1:p.Ala34Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.101C>A
  hgvsp: ENSP00000457042.1:p.Ala34Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.101C>A
  hgvsp: ENSP00000455572.1:p.Ala34Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.101C>A
  hgvsp: ENSP00000456114.1:p.Ala34Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.101C>A
  hgvsp: ENSP00000457622.1:p.Ala34Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.101C>A
  hgvsp: ENSP00000377914.4:p.Ala34Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.576C>A
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 20207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 13361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
hgvs: p.Ala34Glu
num of homozygotes: 11
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

16-57474750-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474750
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474750
    reference: chr 16
allele count: 6
allele frequency: 4.971002485501243e-5
allele num: 120700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.91A>G
  hgvsp: ENSP00000456114.1:p.Lys31Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.96A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.91A>G
  hgvsp: ENSP00000457622.1:p.Lys31Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.91A>G
  hgvsp: ENSP00000458000.1:p.Lys31Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+115A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.91A>G
  hgvsp: ENSP00000377914.4:p.Lys31Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1543A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.91A>G
  hgvsp: ENSP00000457042.1:p.Lys31Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.91A>G
  hgvsp: ENSP00000455572.1:p.Lys31Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.91A>G
  hgvsp: ENSP00000455309.1:p.Lys31Glu
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.158A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.566A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.91A>G
  hgvsp: ENSP00000454480.1:p.Lys31Glu
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys31Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

16-57474755-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474755
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474755
    reference: chr 16
allele count: 3
allele frequency: 2.485501242750621e-5
allele num: 120700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.86T>C
  hgvsp: ENSP00000458000.1:p.Val29Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.91T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.86T>C
  hgvsp: ENSP00000454480.1:p.Val29Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.86T>C
  hgvsp: ENSP00000456114.1:p.Val29Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.86T>C
  hgvsp: ENSP00000457622.1:p.Val29Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.86T>C
  hgvsp: ENSP00000455309.1:p.Val29Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+110T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1548T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.86T>C
  hgvsp: ENSP00000457042.1:p.Val29Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.86T>C
  hgvsp: ENSP00000455572.1:p.Val29Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.86T>C
  hgvsp: ENSP00000377914.4:p.Val29Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.153T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.561T>C
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13461
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val29Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-57474759-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474759
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474759
    reference: chr 16
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.82C>A
  hgvsp: ENSP00000458000.1:p.Leu28Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.82C>A
  hgvsp: ENSP00000457622.1:p.Leu28Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+106C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.82C>A
  hgvsp: ENSP00000377914.4:p.Leu28Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.149C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.82C>A
  hgvsp: ENSP00000455309.1:p.Leu28Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.82C>A
  hgvsp: ENSP00000457042.1:p.Leu28Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.557C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.82C>A
  hgvsp: ENSP00000455572.1:p.Leu28Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.82C>A
  hgvsp: ENSP00000456114.1:p.Leu28Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1552C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.87C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.82C>A
  hgvsp: ENSP00000454480.1:p.Leu28Met
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu28Met
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

16-57474764-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474764
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474764
    reference: chr 16
allele count: 6
allele frequency: 4.97124960644274e-5
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.552A>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.77A>T
  hgvsp: ENSP00000455309.1:p.Lys26Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.77A>T
  hgvsp: ENSP00000456114.1:p.Lys26Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.77A>T
  hgvsp: ENSP00000457042.1:p.Lys26Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.77A>T
  hgvsp: ENSP00000455572.1:p.Lys26Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.77A>T
  hgvsp: ENSP00000458000.1:p.Lys26Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.82A>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.144A>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.77A>T
  hgvsp: ENSP00000457622.1:p.Lys26Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.77A>T
  hgvsp: ENSP00000454480.1:p.Lys26Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+101A>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.77A>T
  hgvsp: ENSP00000377914.4:p.Lys26Ile
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1557A>T
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20366
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys26Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-57474777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474777
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474777
    reference: chr 16
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.131G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.539G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.64G>A
  hgvsp: ENSP00000458000.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.64G>A
  hgvsp: ENSP00000456114.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1570G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.64G>A
  hgvsp: ENSP00000455309.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.64G>A
  hgvsp: ENSP00000455572.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.64G>A
  hgvsp: ENSP00000377914.4:p.Val22Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.64G>A
  hgvsp: ENSP00000457042.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.64G>A
  hgvsp: ENSP00000457622.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+88G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.64G>A
  hgvsp: ENSP00000454480.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.69G>A
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val22Met
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

16-57474783-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474783
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474783
    reference: chr 16
allele count: 2
allele frequency: 1.657193046417977e-5
allele num: 120686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.58T>C
  hgvsp: ENSP00000457042.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.63T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.58T>C
  hgvsp: ENSP00000455572.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.58T>C
  hgvsp: ENSP00000377914.4:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.58T>C
  hgvsp: ENSP00000457622.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.125T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.58T>C
  hgvsp: ENSP00000456114.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.58T>C
  hgvsp: ENSP00000458000.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.533T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1576T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+82T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.58T>C
  hgvsp: ENSP00000455309.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.58T>C
  hgvsp: ENSP00000454480.1:p.Ser20Pro
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser20Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

16-57474784-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474784
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474784
    reference: chr 16
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.62A>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.57A>T
  hgvsp: ENST00000567518.1:c.57A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.57A>T
  hgvsp: ENST00000569370.1:c.57A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.57A>T
  hgvsp: ENST00000569979.1:c.57A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.124A>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.57A>T
  hgvsp: ENST00000565961.1:c.57A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.57A>T
  hgvsp: ENST00000570000.1:c.57A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.57A>T
  hgvsp: ENST00000563341.1:c.57A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.532A>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.57A>T
  hgvsp: ENST00000568940.1:c.57A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.57A>T
  hgvsp: ENST00000394391.4:c.57A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+81A>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1577A>T
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser19Ser
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

16-57474791-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474791
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474791
    reference: chr 16
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+74A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.50A>G
  hgvsp: ENSP00000454480.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.50A>G
  hgvsp: ENSP00000457622.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.50A>G
  hgvsp: ENSP00000457042.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1584A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.50A>G
  hgvsp: ENSP00000458000.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.50A>G
  hgvsp: ENSP00000455572.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.50A>G
  hgvsp: ENSP00000377914.4:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.55A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.50A>G
  hgvsp: ENSP00000455309.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.525A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.117A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.50A>G
  hgvsp: ENSP00000456114.1:p.Asp17Gly
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp17Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

16-57474796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474796
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474796
    reference: chr 16
allele count: 10
allele frequency: 8.287888080359362e-5
allele num: 120658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.45C>T
  hgvsp: ENST00000563341.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1589C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.45C>T
  hgvsp: ENST00000394391.4:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.45C>T
  hgvsp: ENST00000567518.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.112C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.45C>T
  hgvsp: ENST00000570000.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.45C>T
  hgvsp: ENST00000565961.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.45C>T
  hgvsp: ENST00000569979.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.45C>T
  hgvsp: ENST00000569370.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.520C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+69C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.45C>T
  hgvsp: ENST00000568940.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.50C>T
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val15Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

16-57474797-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474797
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474797
    reference: chr 16
allele count: 34
allele frequency: 2.817975367580022e-4
allele num: 120654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.44T>C
  hgvsp: ENSP00000456114.1:p.Val15Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.44T>C
  hgvsp: ENSP00000458000.1:p.Val15Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+68T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.44T>C
  hgvsp: ENSP00000454480.1:p.Val15Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1590T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.44T>C
  hgvsp: ENSP00000455572.1:p.Val15Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.49T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.44T>C
  hgvsp: ENSP00000457042.1:p.Val15Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.111T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.44T>C
  hgvsp: ENSP00000377914.4:p.Val15Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.44T>C
  hgvsp: ENSP00000455309.1:p.Val15Ala
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.519T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.44T>C
  hgvsp: ENSP00000457622.1:p.Val15Ala
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val15Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-57474803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474803
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474803
    reference: chr 16
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1596C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.38C>T
  hgvsp: ENSP00000455309.1:p.Ala13Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.38C>T
  hgvsp: ENSP00000455572.1:p.Ala13Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.38C>T
  hgvsp: ENSP00000458000.1:p.Ala13Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.513C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.38C>T
  hgvsp: ENSP00000456114.1:p.Ala13Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+62C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.38C>T
  hgvsp: ENSP00000457042.1:p.Ala13Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.43C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.38C>T
  hgvsp: ENSP00000377914.4:p.Ala13Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.38C>T
  hgvsp: ENSP00000457622.1:p.Ala13Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.38C>T
  hgvsp: ENSP00000454480.1:p.Ala13Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.105C>T
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala13Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-57474814-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474814
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474814
    reference: chr 16
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.27C>G
  hgvsp: ENST00000570000.1:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.32C>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.27C>G
  hgvsp: ENST00000568940.1:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.27C>G
  hgvsp: ENST00000567518.1:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.27C>G
  hgvsp: ENST00000569370.1:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.27C>G
  hgvsp: ENST00000563341.1:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.27C>G
  hgvsp: ENST00000565961.1:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1607C>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.94C>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.27C>G
  hgvsp: ENST00000569979.1:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.502C>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.27C>G
  hgvsp: ENST00000394391.4:c.27C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+51C>G
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly9Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

16-57474818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474818
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474818
    reference: chr 16
allele count: 2
allele frequency: 1.659200265472042e-5
allele num: 120540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.23C>T
  hgvsp: ENSP00000457622.1:p.Ala8Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.23C>T
  hgvsp: ENSP00000454480.1:p.Ala8Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.23C>T
  hgvsp: ENSP00000458000.1:p.Ala8Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.23C>T
  hgvsp: ENSP00000377914.4:p.Ala8Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.23C>T
  hgvsp: ENSP00000455309.1:p.Ala8Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.23C>T
  hgvsp: ENSP00000455572.1:p.Ala8Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.28C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.23C>T
  hgvsp: ENSP00000456114.1:p.Ala8Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+47C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1611C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.23C>T
  hgvsp: ENSP00000457042.1:p.Ala8Val
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.90C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.498C>T
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala8Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

16-57474840-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474840
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474840
    reference: chr 16
allele count: 1
allele frequency: 8.326117364950376e-6
allele num: 120104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.1A>G
  hgvsp: ENSP00000455572.1:p.Met1?
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1633A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.1A>G
  hgvsp: ENSP00000457622.1:p.Met1?
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.1A>G
  hgvsp: ENSP00000377914.4:p.Met1?
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.1A>G
  hgvsp: ENSP00000457042.1:p.Met1?
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.1A>G
  hgvsp: ENSP00000455309.1:p.Met1?
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.1A>G
  hgvsp: ENSP00000454480.1:p.Met1?
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.1A>G
  hgvsp: ENSP00000456114.1:p.Met1?
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+25A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.6A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.1A>G
  hgvsp: ENSP00000458000.1:p.Met1?
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.476A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.68A>G
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

16-57474845-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474845
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474845
    reference: chr 16
allele count: 3
allele frequency: 2.499916669444352e-5
allele num: 120004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000569246
  gene symbol: CIAPIN1
  hgvsc: ENST00000569246.1:n.1C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.63C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.-5C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1638C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-5C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.-5C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.471C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.-5C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-57+20C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.-5C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.-5C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.-5C>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.-5C>A
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-57474846-CAGTGCAGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474846
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474838
    reference: chr 16
allele count: 4201
allele frequency: 3.494892016904595e-2
allele num: 120204
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-14_-7delACTGCACT
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.-14_-7delACTGCACT
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.-14_-7delACTGCACT
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.-14_-7delACTGCACT
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.-14_-7delACTGCACT
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.462_469delACTGCACT
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.-14_-7delACTGCACT
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.-14_-7delACTGCACT
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.-14_-7delACTGCACT
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.54_61delACTGCACT
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 5.25e1
  variant carriers: 441
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 2.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 3.75e1
  variant carriers: 612
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 4.25e1
  variant carriers: 653
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 5.75e1
  variant carriers: 270
genotype depth: GenotypeDepth
  all individuals: 12907
  bin: 3.25e1
  variant carriers: 520
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 19604
  bin: 2.75e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 4.75e1
  variant carriers: 561
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.25e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
num of homozygotes: 97
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: CAGTGCAGT
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

16-57474875-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474875
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474874
    reference: chr 16
allele count: 1
allele frequency: 8.353660574063554e-6
allele num: 119708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.37-5delA
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.-36delA
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.-36delA
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.-36delA
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.-36delA
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.-36delA
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.440delA
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.-36delA
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1669delA
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-68delA
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-36delA
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.-36delA
  variant of: http://identifiers.org/hgnc/28050
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.37-5delA
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CT
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

16-57474884-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57474884
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57474884
    reference: chr 16
allele count: 1
allele frequency: 8.366520531441385e-6
allele num: 119524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455572
  ensembl transcript: ENST00000563341
  gene symbol: CIAPIN1
  hgvsc: ENST00000563341.1:c.-44T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000454480
  ensembl transcript: ENST00000568940
  gene symbol: CIAPIN1
  hgvsc: ENST00000568940.1:c.-44T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457622
  ensembl transcript: ENST00000570000
  gene symbol: CIAPIN1
  hgvsc: ENST00000570000.1:c.-44T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-44T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000455309
  ensembl transcript: ENST00000565961
  gene symbol: CIAPIN1
  hgvsc: ENST00000565961.1:c.-44T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000458000
  ensembl transcript: ENST00000569979
  gene symbol: CIAPIN1
  hgvsc: ENST00000569979.1:c.-44T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000565368
  gene symbol: CIAPIN1
  hgvsc: ENST00000565368.1:n.37-13T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457318
  ensembl transcript: ENST00000565786
  gene symbol: CIAPIN1
  hgvsc: ENST00000565786.1:c.-416-1677T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000456114
  ensembl transcript: ENST00000567518
  gene symbol: CIAPIN1
  hgvsc: ENST00000567518.1:c.-44T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457400
  ensembl transcript: ENST00000567751
  gene symbol: CIAPIN1
  hgvsc: ENST00000567751.1:c.-76T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005194
  ensembl transcript: ENST00000566284
  gene symbol: CIAPIN1
  hgvsc: ENST00000566284.1:n.432T>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000457042
  ensembl transcript: ENST00000569370
  gene symbol: CIAPIN1
  hgvsc: ENST00000569370.1:c.-44T>C
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14222
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

16-57481372-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481372
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481372
    reference: chr 16
allele count: 1
allele frequency: 2.692514808831449e-4
allele num: 3714
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.36C>G
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.-46C>G
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-174G>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.-46C>G
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38079
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30850
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5959
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

16-57481372-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481372
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481372
    reference: chr 16
allele count: 1
allele frequency: 2.692514808831449e-4
allele num: 3714
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.-46C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-174G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.36C>T
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38079
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30850
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5959
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

16-57481391-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481391
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481391
    reference: chr 16
allele count: 6
allele frequency: 1.786777843954735e-3
allele num: 3358
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.-27G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.55G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-193C>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.-27G>C
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36749
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11522
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7784
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31969
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

16-57481393-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481393
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481393
    reference: chr 16
allele count: 11
allele frequency: 3.195816385822196e-3
allele num: 3442
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.-25C>G
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.-25C>G
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-195G>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.57C>G
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 36719
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32212
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8209
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 6.75e1
  variant carriers: 5
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

16-57481400-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481400
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481400
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 3700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.-18G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.7G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.-18G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.7G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-202C>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.-18G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.64G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.-18G>C
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14742
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff

16-57481404-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481404
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481404
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 3906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.-14T>G
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.68T>G
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.-14T>G
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.-14T>G
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.11T>G
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.11T>G
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-206A>C
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.-14T>G
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16923
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32073
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

16-57481409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481409
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481409
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 4146
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.-9G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-211C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.16G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.73G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.16G>A
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19446
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30857
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

16-57481410-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481410
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481410
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 4230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.17C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.17C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.-8C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.74C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-212G>A
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.-8C>T
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19952
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

16-57481411-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481411
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481411
    reference: chr 16
allele count: 1
allele frequency: 2.324500232450023e-4
allele num: 4302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.18T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-213A>G
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.-7T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.18T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.75T>C
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

16-57481419-T-TGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481419
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481422
    reference: chr 16
allele count: 1
allele frequency: 2.249212775528565e-4
allele num: 4446
alternate allele: TGGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.38_40dupCGG
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.14_16dupCGG
  hgvsp: ENSP00000455256.1:p.Ala5dup
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.95_97dupCGG
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.14_16dupCGG
  hgvsp: ENSP00000262507.5:p.Ala5dup
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.14_16dupCGG
  hgvsp: ENSP00000456174.1:p.Ala5dup
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.14_16dupCGG
  hgvsp: ENSP00000458023.1:p.Ala5dup
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.17_19dupCGG
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.38_40dupCGG
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-224_-222dupGCC
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.14_16dupCGG
  hgvsp: ENSP00000456728.1:p.Ala5dup
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.14_16dupCGG
  hgvsp: ENSP00000454992.1:p.Ala5dup
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22211
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5dup
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

16-57481419-TGGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481419
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481416
    reference: chr 16
allele count: 2
allele frequency: 4.49842555105713e-4
allele num: 4446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.14_16delCGG
  hgvsp: ENSP00000456174.1:p.Ala5del
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.95_97delCGG
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.38_40delCGG
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.14_16delCGG
  hgvsp: ENSP00000455256.1:p.Ala5del
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-224_-222delGCC
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.14_16delCGG
  hgvsp: ENSP00000458023.1:p.Ala5del
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.14_16delCGG
  hgvsp: ENSP00000456728.1:p.Ala5del
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.17_19delCGG
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.14_16delCGG
  hgvsp: ENSP00000262507.5:p.Ala5del
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.14_16delCGG
  hgvsp: ENSP00000454992.1:p.Ala5del
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.38_40delCGG
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22211
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5del
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: TGGC
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

16-57481420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481420
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481420
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 4314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.6G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.3G>A
  hgvsp: ENSP00000454992.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.3G>A
  hgvsp: ENSP00000456174.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.3G>A
  hgvsp: ENSP00000456728.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.84G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.27G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.3G>A
  hgvsp: ENSP00000262507.5:p.Met1?
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.3G>A
  hgvsp: ENSP00000455256.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-222C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.27G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.3G>A
  hgvsp: ENSP00000458023.1:p.Met1?
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: start lost
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22145
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
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: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

16-57481421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481421
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481421
    reference: chr 16
allele count: 1
allele frequency: 2.277904328018223e-4
allele num: 4390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.4G>A
  hgvsp: ENSP00000458023.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.4G>A
  hgvsp: ENSP00000456728.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.28G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.4G>A
  hgvsp: ENSP00000454992.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-223C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.4G>A
  hgvsp: ENSP00000456174.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.4G>A
  hgvsp: ENSP00000262507.5:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.4G>A
  hgvsp: ENSP00000455256.1:p.Ala2Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.28G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.85G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.7G>A
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala2Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

16-57481426-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481426
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481426
    reference: chr 16
allele count: 1
allele frequency: 1.937984496124031e-4
allele num: 5160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.12G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.9G>A
  hgvsp: ENST00000262507.6:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.9G>A
  hgvsp: ENST00000565964.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.9G>A
  hgvsp: ENST00000567072.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-228C>T
  variant of: http://identifiers.org/hgnc/28050
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.9G>A
  hgvsp: ENST00000567933.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.9G>A
  hgvsp: ENST00000564115.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.33G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.33G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.90G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.9G>A
  hgvsp: ENST00000564655.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala3Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

16-57481431-C-CGGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481431
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481434
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 5254
alternate allele: CGGT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.15_17dupGGT
  hgvsp: ENSP00000454992.1:p.Val6dup
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.15_17dupGGT
  hgvsp: ENSP00000455256.1:p.Val6dup
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.15_17dupGGT
  hgvsp: ENSP00000262507.5:p.Val6dup
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.15_17dupGGT
  hgvsp: ENSP00000456174.1:p.Val6dup
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.39_41dupGGT
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.15_17dupGGT
  hgvsp: ENSP00000458023.1:p.Val6dup
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.15_17dupGGT
  hgvsp: ENSP00000456728.1:p.Val6dup
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.18_20dupGGT
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.96_98dupGGT
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.39_41dupGGT
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000005194
  ensembl protein: ENSP00000377914
  ensembl transcript: ENST00000394391
  gene symbol: CIAPIN1
  hgvsc: ENST00000394391.4:c.-236_-234dupACC
  variant of: http://identifiers.org/hgnc/28050
canonical: true
consequence: inframe insertion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 25066
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val6dup
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

16-57481443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481443
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481443
    reference: chr 16
allele count: 14
allele frequency: 2.254428341384863e-3
allele num: 6210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.107C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.50C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.26C>T
  hgvsp: ENSP00000455256.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.26C>T
  hgvsp: ENSP00000456174.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.26C>T
  hgvsp: ENSP00000458023.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.26C>T
  hgvsp: ENSP00000262507.5:p.Ala9Val
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.50C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.26C>T
  hgvsp: ENSP00000456728.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.26C>T
  hgvsp: ENSP00000454992.1:p.Ala9Val
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.29C>T
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25421
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27339
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala9Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-57481445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481445
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481445
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 6336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.28C>T
  hgvsp: ENSP00000458023.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.28C>T
  hgvsp: ENSP00000454992.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.109C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.28C>T
  hgvsp: ENSP00000262507.5:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.28C>T
  hgvsp: ENSP00000455256.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.31C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.28C>T
  hgvsp: ENSP00000456728.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.52C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.28C>T
  hgvsp: ENSP00000456174.1:p.Leu10Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.52C>T
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27442
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24446
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu10Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

16-57481446-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481446
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481446
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 6438
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.29T>C
  hgvsp: ENSP00000262507.5:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.29T>C
  hgvsp: ENSP00000455256.1:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.29T>C
  hgvsp: ENSP00000458023.1:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.110T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.29T>C
  hgvsp: ENSP00000454992.1:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.32T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.53T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.29T>C
  hgvsp: ENSP00000456728.1:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.29T>C
  hgvsp: ENSP00000456174.1:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.53T>C
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27563
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu10Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

16-57481448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481448
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481448
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 6408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.31G>A
  hgvsp: ENSP00000458023.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.31G>A
  hgvsp: ENSP00000454992.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.31G>A
  hgvsp: ENSP00000262507.5:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.55G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.31G>A
  hgvsp: ENSP00000456174.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.112G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.31G>A
  hgvsp: ENSP00000456728.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.34G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.55G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.31G>A
  hgvsp: ENSP00000455256.1:p.Gly11Ser
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27328
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly11Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

16-57481450-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481450
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481450
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 6488
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.33C>T
  hgvsp: ENST00000567933.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.33C>T
  hgvsp: ENST00000564655.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.33C>T
  hgvsp: ENST00000565964.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.33C>T
  hgvsp: ENST00000262507.6:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.33C>T
  hgvsp: ENST00000564115.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.36C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.114C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.57C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.33C>T
  hgvsp: ENST00000567072.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.57C>T
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27485
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly11Gly
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-57481451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481451
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481451
    reference: chr 16
allele count: 1
allele frequency: 1.490312965722802e-4
allele num: 6710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.34C>T
  hgvsp: ENSP00000456174.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.34C>T
  hgvsp: ENSP00000454992.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.34C>T
  hgvsp: ENSP00000262507.5:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.34C>T
  hgvsp: ENSP00000458023.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.115C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.58C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.34C>T
  hgvsp: ENSP00000456728.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.34C>T
  hgvsp: ENSP00000455256.1:p.Arg12Trp
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.37C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.58C>T
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27544
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg12Trp
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

16-57481454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481454
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481454
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 6762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.37G>A
  hgvsp: ENSP00000456728.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.37G>A
  hgvsp: ENSP00000456174.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.37G>A
  hgvsp: ENSP00000455256.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.40G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.118G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.61G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.37G>A
  hgvsp: ENSP00000454992.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.37G>A
  hgvsp: ENSP00000262507.5:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.37G>A
  hgvsp: ENSP00000458023.1:p.Ala13Thr
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.61G>A
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27194
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala13Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/16-57481455-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481455
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481455
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 6758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.62C>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.38C>A
  hgvsp: ENSP00000456174.1:p.Ala13Glu
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.41C>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.38C>A
  hgvsp: ENSP00000456728.1:p.Ala13Glu
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.38C>A
  hgvsp: ENSP00000458023.1:p.Ala13Glu
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.38C>A
  hgvsp: ENSP00000262507.5:p.Ala13Glu
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.119C>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.38C>A
  hgvsp: ENSP00000455256.1:p.Ala13Glu
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.62C>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.38C>A
  hgvsp: ENSP00000454992.1:p.Ala13Glu
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27183
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25092
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala13Glu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

16-57481457-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481457
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481457
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 6936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.64G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.40G>C
  hgvsp: ENSP00000455256.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.43G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.40G>C
  hgvsp: ENSP00000456728.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.121G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.64G>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.40G>C
  hgvsp: ENSP00000454992.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.40G>C
  hgvsp: ENSP00000458023.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.40G>C
  hgvsp: ENSP00000262507.5:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.40G>C
  hgvsp: ENSP00000456174.1:p.Gly14Arg
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26665
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24857
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly14Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

16-57481460-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481460
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481460
    reference: chr 16
allele count: 1
allele frequency: 1.481481481481481e-4
allele num: 6750
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.43T>C
  hgvsp: ENSP00000455256.1:p.Trp15Arg
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.43T>C
  hgvsp: ENSP00000262507.5:p.Trp15Arg
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.43T>C
  hgvsp: ENSP00000458023.1:p.Trp15Arg
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.67T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.43T>C
  hgvsp: ENSP00000454992.1:p.Trp15Arg
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.43T>C
  hgvsp: ENSP00000456728.1:p.Trp15Arg
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.124T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.43T>C
  hgvsp: ENSP00000456174.1:p.Trp15Arg
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.46T>C
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.67T>C
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp15Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

16-57481465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481465
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481465
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 6576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.129G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.48G>A
  hgvsp: ENST00000262507.6:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.72G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.48G>A
  hgvsp: ENST00000565964.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.51G>A
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.48G>A
  hgvsp: ENST00000564115.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.48G>A
  hgvsp: ENST00000567933.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.48G>A
  hgvsp: ENST00000564655.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.48G>A
  hgvsp: ENST00000567072.1:c.48G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.72G>A
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24835
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg16Arg
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

16-57481466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481466
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481466
    reference: chr 16
allele count: 1
allele frequency: 1.51148730350665e-4
allele num: 6616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.49C>T
  hgvsp: ENSP00000454992.1:p.Leu17Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.49C>T
  hgvsp: ENSP00000456174.1:p.Leu17Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.130C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.49C>T
  hgvsp: ENSP00000455256.1:p.Leu17Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.52C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.49C>T
  hgvsp: ENSP00000456728.1:p.Leu17Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.49C>T
  hgvsp: ENSP00000262507.5:p.Leu17Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.49C>T
  hgvsp: ENSP00000458023.1:p.Leu17Phe
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.73C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.73C>T
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu17Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

16-57481468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481468
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481468
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 6520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.51C>T
  hgvsp: ENST00000567933.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.51C>T
  hgvsp: ENST00000564655.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.51C>T
  hgvsp: ENST00000564115.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.51C>T
  hgvsp: ENST00000262507.6:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.132C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.75C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.51C>T
  hgvsp: ENST00000565964.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.54C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.75C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.51C>T
  hgvsp: ENST00000567072.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24418
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu17Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

16-57481469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57481469
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 57481469
    reference: chr 16
allele count: 1
allele frequency: 1.531862745098039e-4
allele num: 6528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562426
  gene symbol: COQ9
  hgvsc: ENST00000562426.1:n.55C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456728
  ensembl transcript: ENST00000567072
  gene symbol: COQ9
  hgvsc: ENST00000567072.1:c.52C>T
  hgvsp: ENST00000567072.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000566388
  gene symbol: COQ9
  hgvsc: ENST00000566388.1:n.133C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000262507
  ensembl transcript: ENST00000262507
  gene symbol: COQ9
  hgvsc: ENST00000262507.6:c.52C>T
  hgvsp: ENST00000262507.6:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000456174
  ensembl transcript: ENST00000567933
  gene symbol: COQ9
  hgvsc: ENST00000567933.1:c.52C>T
  hgvsp: ENST00000567933.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000455256
  ensembl transcript: ENST00000564115
  gene symbol: COQ9
  hgvsc: ENST00000564115.1:c.52C>T
  hgvsp: ENST00000564115.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000454992
  ensembl transcript: ENST00000564655
  gene symbol: COQ9
  hgvsc: ENST00000564655.1:c.52C>T
  hgvsp: ENST00000564655.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000562734
  gene symbol: COQ9
  hgvsc: ENST00000562734.1:n.76C>T
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000088682
  ensembl protein: ENSP00000458023
  ensembl transcript: ENST00000565964
  gene symbol: COQ9
  hgvsc: ENST00000565964.1:c.52C>T
  hgvsp: ENST00000565964.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25302
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000088682
  ensembl transcript: ENST00000568790
  gene symbol: COQ9
  hgvsc: ENST00000568790.1:n.76C>T
  variant of: http://identifiers.org/hgnc/25302
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu18Leu
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 392
bin: 9.25e1
variant carriers: 338

GenotypeDepth
all individuals: 997
bin: 5.75e1
variant carriers: 67

GenotypeDepth
all individuals: 3701
bin: 4.25e1
variant carriers: 34

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1847
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12583
bin: 9.75e1
variant carriers: 5508

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4229
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1281
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 381
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3019
bin: 7.25e1
variant carriers: 9

GenotypeQuality
all individuals: 227
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2986
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1863
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23013
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 5

GenotypeQuality
all individuals: 8134
bin: 6.75e1
variant carriers: 7

East Asian
type: Population
allele count: 2
allele frequency: 2.322340919647004e-4
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 56
allele frequency: 6.542056074766354e-2
allele num: 856
num of homozygotes: 0

African
type: Population
allele count: 154
allele frequency: 1.57948717948718e-2
allele num: 9750
num of homozygotes: 2

Latino
type: Population
allele count: 295
allele frequency: 2.55632582322357e-2
allele num: 11540
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 474
allele frequency: 7.166616268521318e-2
allele num: 6614
num of homozygotes: 15

European (Non-Finnish)
type: Population
allele count: 3673
allele frequency: 5.583424540921805e-2
allele num: 65784
num of homozygotes: 110

South Asian
type: Population
allele count: 1076
allele frequency: 7.840279801807053e-2
allele num: 13724
num of homozygotes: 51

MQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 1.255e1

FS
type: SiteQuality
SIO_000300: 5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 2.352313e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

MQ
type: SiteQuality
SIO_000300: 5.734e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

GenotypeDepth
all individuals: 346
bin: 8.75e1
variant carriers: 253

GenotypeDepth
all individuals: 359
bin: 8.25e1
variant carriers: 234

GenotypeDepth
all individuals: 5988
bin: 3.75e1
variant carriers: 40

GenotypeDepth
all individuals: 1564
bin: 5.25e1
variant carriers: 48

GenotypeDepth
all individuals: 3741
bin: 9.75e1
variant carriers: 3497

GenotypeQuality
all individuals: 1292
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 24221
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 894
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 8355
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4302
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3016
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3107
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 12630
bin: 9.75e1
variant carriers: 5553

GenotypeQuality
all individuals: 1869
bin: 9.25e1
variant carriers: 2

African
type: Population
allele count: 154
allele frequency: 1.573676680972818e-2
allele num: 9786
num of homozygotes: 2

Latino
type: Population
allele count: 295
allele frequency: 2.550138312586445e-2
allele num: 11568
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 474
allele frequency: 7.166616268521318e-2
allele num: 6614
num of homozygotes: 15

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 1101
allele frequency: 7.241515390686662e-2
allele num: 15204
num of homozygotes: 51

Other
type: Population
allele count: 56
allele frequency: 6.349206349206349e-2
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3677
allele frequency: 5.547006999758629e-2
allele num: 66288
num of homozygotes: 109

MQ
type: SiteQuality
SIO_000300: 5.711e1

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 2.397234e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.344e1

GenotypeDepth
all individuals: 659
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19688
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1628
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9229
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4814
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 853
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7757
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 3392
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15288
num of homozygotes: 0

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

Latino
type: Population
allele count: 11
allele frequency: 9.508990318118949e-4
allele num: 11568
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

DP
type: SiteQuality
SIO_000300: 1.980181e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.96e0

MQ
type: SiteQuality
SIO_000300: 5.761e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

FS
type: SiteQuality
SIO_000300: 1.724e0

VQSLOD
type: SiteQuality
SIO_000300: -1.326e0

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeDepth
all individuals: 13049
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4006
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1003
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4836
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9265
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7750
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
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: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
type: SiteQuality
SIO_000300: 5.667e1

VQSLOD
type: SiteQuality
SIO_000300: -1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 3.487e0

QD
type: SiteQuality
SIO_000300: 1.403e1

DP
type: SiteQuality
SIO_000300: 1.980742e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeDepth
all individuals: 298
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 463
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2497
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19831
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26868
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4866
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7749
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2068
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15662
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: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.985174e6

FS
type: SiteQuality
SIO_000300: 1.935e0

MQ
type: SiteQuality
SIO_000300: 5.694e1

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.718e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.888e0

QD
type: SiteQuality
SIO_000300: 1.557e1

GenotypeDepth
all individuals: 251
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 274
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9311
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3424
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3440
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2070
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1424
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7749
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.884e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.466e0

FS
type: SiteQuality
SIO_000300: 2.149e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.383e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.986652e6

GenotypeDepth
all individuals: 463
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27223
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7754
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4909
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9372
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.236746912810279e-5
allele num: 16034
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: 9798
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.63e1

FS
type: SiteQuality
SIO_000300: 6.401e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.563e0

DP
type: SiteQuality
SIO_000300: 1.992199e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.266e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.124e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

GenotypeDepth
all individuals: 96
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19970
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 659
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4916
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 9379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
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GenotypeQuality
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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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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.507482420818559e-5
allele num: 66556
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.711e1

InbreedingCoeff
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BaseQRankSum
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SIO_000300: 4.04e0

ReadPosRankSum
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SIO_000300: 3.14e-1

DP
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SIO_000300: 1.992732e6

FS
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SIO_000300: 1.757e0

VQSLOD
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SIO_000300: -1.508e-1

QD
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SIO_000300: 1.281e1

ClippingRankSum
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SIO_000300: -1.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

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

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

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

East Asian
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allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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MQRankSum
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SIO_000300: 8.26e-1

DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
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SIO_000300: 1.43e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 2101
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000210014701029e-5
allele num: 66662
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.833068556764023e-4
allele num: 16366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 8624
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

African
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allele count: 1
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allele num: 9802
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BaseQRankSum
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SIO_000300: -1.428e0

MQRankSum
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SIO_000300: 2.04e-1

InbreedingCoeff
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QD
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FS
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SIO_000300: 1.102e0

ReadPosRankSum
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VQSLOD
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MQ
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SIO_000300: 5.662e1

DP
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SIO_000300: 1.999764e6

ClippingRankSum
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SIO_000300: -5.45e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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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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bin: 7.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 14
allele frequency: 1.623000231857176e-3
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.39e-1

InbreedingCoeff
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ClippingRankSum
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SIO_000300: -6.7e-2

FS
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VQSLOD
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MQ
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SIO_000300: 5.698e1

MQRankSum
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SIO_000300: 9.82e-1

DP
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SIO_000300: 2.00029e6

BaseQRankSum
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SIO_000300: 6.8e-1

QD
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SIO_000300: 1.239e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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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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South Asian
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allele count: 1
allele frequency: 6.101281269066504e-5
allele num: 16390
num of homozygotes: 0

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

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

East Asian
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allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

DP
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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SIO_000300: -7.02e-1

QD
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SIO_000300: 1.179e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

African
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allele num: 9802
num of homozygotes: 0

South Asian
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allele frequency: 6.101281269066504e-5
allele num: 16390
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

Latino
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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MQ
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QD
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VQSLOD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

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

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Other
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African
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DP
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

GenotypeDepth
all individuals: 2502
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
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variant carriers: 0

GenotypeDepth
all individuals: 459
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 92
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9500
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7737
bin: 9.75e1
variant carriers: 6

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

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

GenotypeQuality
all individuals: 4967
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variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3505
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.217433649866082e-4
allele num: 16428
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: 3
allele frequency: 3.060599877576005e-4
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.000053e6

FS
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.662e1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

GenotypeDepth
all individuals: 91
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 54
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 242
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variant carriers: 9

GenotypeDepth
all individuals: 657
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variant carriers: 1

GenotypeQuality
all individuals: 3512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27481
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9505
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7734
bin: 9.75e1
variant carriers: 14

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

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

GenotypeQuality
all individuals: 1455
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
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: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997541008186643e-5
allele num: 66694
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.825928180158247e-4
allele num: 16430
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.796429399489915e-4
allele num: 8626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.36e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.636e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 2.000132e6

QD
type: SiteQuality
SIO_000300: 1.379e1

GenotypeDepth
all individuals: 13358
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
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variant carriers: 0

GenotypeDepth
all individuals: 195
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variant carriers: 0

GenotypeDepth
all individuals: 459
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variant carriers: 2

GenotypeDepth
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

GenotypeQuality
all individuals: 2106
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 9
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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: 7730
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 71
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27479
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variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3505
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variant carriers: 0

GenotypeQuality
all individuals: 9507
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.099076406381192e-4
allele num: 66696
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
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: 8626
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.56e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

QD
type: SiteQuality
SIO_000300: 1.291e1

VQSLOD
type: SiteQuality
SIO_000300: -1.406e-1

DP
type: SiteQuality
SIO_000300: 1.999538e6

GenotypeDepth
all individuals: 4024
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13358
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 294
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variant carriers: 0

GenotypeDepth
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 27506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4969
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3505
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 7720
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9509
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variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 1455
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: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.31e1

VQSLOD
type: SiteQuality
SIO_000300: -1.172e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

FS
type: SiteQuality
SIO_000300: 1.608e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

DP
type: SiteQuality
SIO_000300: 1.998872e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1003
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 653
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7723
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 3516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 4969
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 7
allele frequency: 7.141399714344012e-4
allele num: 9802
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.215953307392996e-4
allele num: 16448
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.391143055877579e-3
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.455425017277125e-4
allele num: 11576
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: 5.647e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 1.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

DP
type: SiteQuality
SIO_000300: 1.999483e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.573e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

GenotypeDepth
all individuals: 88
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 449
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variant carriers: 0

GenotypeDepth
all individuals: 196
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variant carriers: 0

GenotypeDepth
all individuals: 52
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variant carriers: 0

GenotypeDepth
all individuals: 115
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variant carriers: 0

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

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 9506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27500
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 7745
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variant carriers: 2

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3503
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 4973
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 1449
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variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
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variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
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: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.89e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 2.00543e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.647e1

QD
type: SiteQuality
SIO_000300: 1.428e1

GenotypeDepth
all individuals: 6615
bin: 3.75e1
variant carriers: 4

GenotypeDepth
all individuals: 196
bin: 7.75e1
variant carriers: 30

GenotypeDepth
all individuals: 52
bin: 9.25e1
variant carriers: 27

GenotypeDepth
all individuals: 312
bin: 9.75e1
variant carriers: 192

GenotypeDepth
all individuals: 285
bin: 7.25e1
variant carriers: 31

GenotypeQuality
all individuals: 1449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

GenotypeQuality
all individuals: 7745
bin: 9.75e1
variant carriers: 465

GenotypeQuality
all individuals: 3514
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variant carriers: 0

GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 3503
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 4973
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27500
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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European (Non-Finnish)
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allele count: 30
allele frequency: 4.496807266840543e-4
allele num: 66714
num of homozygotes: 1

African
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allele frequency: 4.233829830646807e-2
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Other
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allele frequency: 3.34075723830735e-3
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Latino
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allele frequency: 2.418797512093988e-3
allele num: 11576
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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QD
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele num: 66724
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South Asian
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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FS
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SIO_000300: 5.2e-1

InbreedingCoeff
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SIO_000300: 2.0e-4

ClippingRankSum
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SIO_000300: 8.400000000000001e-2

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

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

European (Finnish)
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66724
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FS
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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South Asian
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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QD
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VQSLOD
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FS
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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South Asian
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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DP
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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East Asian
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European (Finnish)
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Latino
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Other
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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African
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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DP
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Finnish)
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African
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Latino
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South Asian
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Other
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European (Non-Finnish)
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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South Asian
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MQRankSum
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VQSLOD
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FS
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QD
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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VQSLOD
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SIO_000300: -2.417e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.55e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.373e0

MQ
type: SiteQuality
SIO_000300: 4.208e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 1.965391e6

FS
type: SiteQuality
SIO_000300: 5.873e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeDepth
all individuals: 419
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 940
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 246
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2398
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7234
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3383
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 605
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 357
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9015
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 4.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

VQSLOD
type: SiteQuality
SIO_000300: -2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

FS
type: SiteQuality
SIO_000300: 2.486e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

DP
type: SiteQuality
SIO_000300: 1.948191e6

GenotypeDepth
all individuals: 631
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2370
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3364
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8934
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25715
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7228
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 408
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.508771929824561e-4
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

FS
type: SiteQuality
SIO_000300: 1.298e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

QD
type: SiteQuality
SIO_000300: 1.181e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.942234e6

MQ
type: SiteQuality
SIO_000300: 4.407e1

VQSLOD
type: SiteQuality
SIO_000300: -2.196e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

GenotypeDepth
all individuals: 89
bin: 8.25e1
variant carriers: 39

GenotypeQuality
all individuals: 303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8450
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3222
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 217
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 709
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1349
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 24739
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3162
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 286
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4570
bin: 7.75e1
variant carriers: 8

GenotypeQuality
all individuals: 10866
bin: 9.75e1
variant carriers: 4047

GenotypeQuality
all individuals: 1941
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 3

East Asian
type: Population
allele count: 614
allele frequency: 7.167872986224609e-2
allele num: 8566
num of homozygotes: 13

Latino
type: Population
allele count: 568
allele frequency: 4.931411703420733e-2
allele num: 11518
num of homozygotes: 12

African
type: Population
allele count: 64
allele frequency: 6.58165364047717e-3
allele num: 9724
num of homozygotes: 0

Other
type: Population
allele count: 32
allele frequency: 3.563474387527839e-2
allele num: 898
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1240
allele frequency: 1.865559366913402e-2
allele num: 66468
num of homozygotes: 10

South Asian
type: Population
allele count: 1411
allele frequency: 8.593179049939098e-2
allele num: 16420
num of homozygotes: 57

European (Finnish)
type: Population
allele count: 272
allele frequency: 4.114977307110439e-2
allele num: 6610
num of homozygotes: 4

DP
type: SiteQuality
SIO_000300: 1.952211e6

MQ
type: SiteQuality
SIO_000300: 4.23e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

FS
type: SiteQuality
SIO_000300: 1.043e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.567e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 5.11e0

GenotypeDepth
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7059
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 455
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66202
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.811608e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.923e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.074e0

QD
type: SiteQuality
SIO_000300: 1.736e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.491e1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

GenotypeDepth
all individuals: 742
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3242
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1731
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17526
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7036
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4169
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512538947877908e-5
allele num: 66114
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.372e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 1.767511e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

FS
type: SiteQuality
SIO_000300: 2.623e0

VQSLOD
type: SiteQuality
SIO_000300: -1.491e0

QD
type: SiteQuality
SIO_000300: 7.06e0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 3.333333333333334e-3
allele num: 300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.96291e5

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

GenotypeQuality
all individuals: 209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.840909090909091e-3
allele num: 352
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.22e-2

DP
type: SiteQuality
SIO_000300: 1.96291e5

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 2

South Asian
type: Population
allele count: 6
allele frequency: 1.796407185628742e-2
allele num: 334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.494e1

VQSLOD
type: SiteQuality
SIO_000300: -1.328e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 3.882e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.0405e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.530000000000001e-2

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.571428571428571e-3
allele num: 280
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 4.347826086956522e-3
allele num: 2070
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 3.125e-2
allele num: 32
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 9.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
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SIO_000300: 3.61e-1

InbreedingCoeff
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SIO_000300: -7.12e-2

DP
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SIO_000300: 2.07698e5

BaseQRankSum
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SIO_000300: -7.27e-1

QD
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SIO_000300: 1.329e1

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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DP
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FS
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -6.94e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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
allele num: 34
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2390
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-2

FS
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SIO_000300: 0.0e0

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

ClippingRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
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SIO_000300: 7.2e-1

GenotypeQuality
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bin: 1.75e1
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 frequency: 0.0e0
allele num: 530
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

South Asian
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allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2564
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 2.56961e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.008e1

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

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

Other
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2606
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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BaseQRankSum
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SIO_000300: -7.31e-1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.59875e5

InbreedingCoeff
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SIO_000300: -6.270000000000001e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-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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South Asian
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allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

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

Latino
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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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East Asian
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allele frequency: 2.994011976047904e-3
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European (Non-Finnish)
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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East Asian
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African
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European (Non-Finnish)
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allele num: 2764
num of homozygotes: 0

VQSLOD
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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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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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 3.61794500723589e-4
allele num: 2764
num of homozygotes: 0

European (Finnish)
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Latino
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African
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South Asian
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East Asian
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Other
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VQSLOD
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ReadPosRankSum
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QD
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FS
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MQ
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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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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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.320000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 2.73213e5

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27472
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.25e1
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: 9.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.663003663003663e-4
allele num: 2730
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.25e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

DP
type: SiteQuality
SIO_000300: 2.74158e5

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.851851851851852e-3
allele num: 540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.381e0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.63e-2

DP
type: SiteQuality
SIO_000300: 2.84688e5

VQSLOD
type: SiteQuality
SIO_000300: -2.402e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.66e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 2.94169e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 1.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQ
type: SiteQuality
SIO_000300: 5.705e1

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

GenotypeQuality
all individuals: 374
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
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variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 789
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5
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variant carriers: 1

GenotypeQuality
all individuals: 1099
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 24
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 50
bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 7.25e1
variant carriers: 3

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 3

South Asian
type: Population
allele count: 13
allele frequency: 1.679586563307494e-2
allele num: 774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.518891687657431e-4
allele num: 3970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.05e-2

DP
type: SiteQuality
SIO_000300: 3.10631e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 9.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 39
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GenotypeQuality
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GenotypeQuality
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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: 750
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25285
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.03e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

QD
type: SiteQuality
SIO_000300: 9.44e0

DP
type: SiteQuality
SIO_000300: 3.11101e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.251e1

DP
type: SiteQuality
SIO_000300: 3.12242e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.221e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.99e-2

FS
type: SiteQuality
SIO_000300: 8.451000000000001e0

GenotypeQuality
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bin: 5.25e1
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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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 8.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4098
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.572e1

QD
type: SiteQuality
SIO_000300: 1.09e1

VQSLOD
type: SiteQuality
SIO_000300: -5.395e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 3.10969e5

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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
all individuals: 18
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GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 63
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GenotypeQuality
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Other
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African
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European (Finnish)
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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MQ
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DP
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FS
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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South Asian
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FS
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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Other
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MQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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East Asian
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Other
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BaseQRankSum
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SIO_000300: 3.58e-1

FS
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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DP
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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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South Asian
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Other
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European (Finnish)
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Latino
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African
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East Asian
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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QD
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MQRankSum
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MQ
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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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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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African
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South Asian
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MQ
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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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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African
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East Asian
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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QD
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MQ
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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Latino
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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QD
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FS
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GenotypeQuality
all individuals: 21319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4136
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.447e0

VQSLOD
type: SiteQuality
SIO_000300: -2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.55e-2

DP
type: SiteQuality
SIO_000300: 2.9332e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

QD
type: SiteQuality
SIO_000300: 6.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1