5-2752511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752511
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752511
    reference: chr 5
allele count: 39
allele frequency: 7.683517869104378e-4
allele num: 50758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.133G>A
  hgvsp: ENSP00000424088.1:p.Val45Ile
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.133G>A
  hgvsp: ENSP00000426967.1:p.Val45Ile
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.133G>A
  hgvsp: ENSP00000334267.3:p.Val45Ile
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+262C>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.133G>A
  hgvsp: ENSP00000425109.1:p.Val45Ile
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.133G>A
  hgvsp: ENSP00000426001.1:p.Val45Ile
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.133G>A
  hgvsp: ENSP00000380935.3:p.Val45Ile
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.133G>A
  hgvsp: ENSP00000408820.2:p.Val45Ile
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31944
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val45Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

5-2752516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752516
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752516
    reference: chr 5
allele count: 2
allele frequency: 3.604253018561903e-5
allele num: 55490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.138C>T
  hgvsp: ENST00000397835.4:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.138C>T
  hgvsp: ENST00000503940.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.138C>T
  hgvsp: ENST00000505778.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+257G>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.138C>T
  hgvsp: ENST00000505106.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.138C>T
  hgvsp: ENST00000334000.3:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.138C>T
  hgvsp: ENST00000457752.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.138C>T
  hgvsp: ENST00000515640.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His46His
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-2752519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752519
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752519
    reference: chr 5
allele count: 1
allele frequency: 1.724019033170126e-5
allele num: 58004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.141C>T
  hgvsp: ENST00000503940.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.141C>T
  hgvsp: ENST00000515640.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.141C>T
  hgvsp: ENST00000397835.4:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.141C>T
  hgvsp: ENST00000457752.2:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.141C>T
  hgvsp: ENST00000334000.3:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.141C>T
  hgvsp: ENST00000505778.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.141C>T
  hgvsp: ENST00000505106.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+254G>A
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser47Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

5-2752529-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752529
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752529
    reference: chr 5
allele count: 1
allele frequency: 1.409522735601725e-5
allele num: 70946
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.151G>T
  hgvsp: ENSP00000334267.3:p.Gly51Ter
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.151G>T
  hgvsp: ENSP00000426967.1:p.Gly51Ter
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.151G>T
  hgvsp: ENSP00000424088.1:p.Gly51Ter
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.151G>T
  hgvsp: ENSP00000380935.3:p.Gly51Ter
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+244C>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.151G>T
  hgvsp: ENSP00000425109.1:p.Gly51Ter
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.151G>T
  hgvsp: ENSP00000408820.2:p.Gly51Ter
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.151G>T
  hgvsp: ENSP00000426001.1:p.Gly51Ter
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly51Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

5-2752531-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752531
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752531
    reference: chr 5
allele count: 1
allele frequency: 1.365672457117885e-5
allele num: 73224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.153A>T
  hgvsp: ENST00000397835.4:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.153A>T
  hgvsp: ENST00000505106.1:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.153A>T
  hgvsp: ENST00000457752.2:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.153A>T
  hgvsp: ENST00000503940.1:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.153A>T
  hgvsp: ENST00000515640.1:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+242T>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.153A>T
  hgvsp: ENST00000334000.3:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.153A>T
  hgvsp: ENST00000505778.1:c.153A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22861
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly51Gly
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

5-2752532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752532
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752532
    reference: chr 5
allele count: 1
allele frequency: 1.348181303421684e-5
allele num: 74174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.154C>T
  hgvsp: ENSP00000426967.1:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.154C>T
  hgvsp: ENSP00000334267.3:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.154C>T
  hgvsp: ENSP00000425109.1:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+241G>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.154C>T
  hgvsp: ENSP00000426001.1:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.154C>T
  hgvsp: ENSP00000380935.3:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.154C>T
  hgvsp: ENSP00000408820.2:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.154C>T
  hgvsp: ENSP00000424088.1:p.Pro52Ser
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6695
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro52Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

5-2752541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752541
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752541
    reference: chr 5
allele count: 1
allele frequency: 1.237807595187404e-5
allele num: 80788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.163G>A
  hgvsp: ENSP00000426001.1:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.163G>A
  hgvsp: ENSP00000380935.3:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+232C>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.163G>A
  hgvsp: ENSP00000424088.1:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.163G>A
  hgvsp: ENSP00000426967.1:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.163G>A
  hgvsp: ENSP00000425109.1:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.163G>A
  hgvsp: ENSP00000334267.3:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.163G>A
  hgvsp: ENSP00000408820.2:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly55Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

5-2752541-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752541
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752541
    reference: chr 5
allele count: 2
allele frequency: 2.475615190374808e-5
allele num: 80788
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.163G>C
  hgvsp: ENSP00000408820.2:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+232C>G
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.163G>C
  hgvsp: ENSP00000426967.1:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.163G>C
  hgvsp: ENSP00000425109.1:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.163G>C
  hgvsp: ENSP00000334267.3:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.163G>C
  hgvsp: ENSP00000426001.1:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.163G>C
  hgvsp: ENSP00000380935.3:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.163G>C
  hgvsp: ENSP00000424088.1:p.Gly55Arg
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly55Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

5-2752548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752548
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752548
    reference: chr 5
allele count: 3
allele frequency: 3.476729093269052e-5
allele num: 86288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.170C>T
  hgvsp: ENSP00000408820.2:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.170C>T
  hgvsp: ENSP00000425109.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.170C>T
  hgvsp: ENSP00000424088.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.170C>T
  hgvsp: ENSP00000426967.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.170C>T
  hgvsp: ENSP00000426001.1:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.170C>T
  hgvsp: ENSP00000334267.3:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.170C>T
  hgvsp: ENSP00000380935.3:p.Pro57Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+225G>A
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27709
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro57Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

5-2752551-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752551
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752551
    reference: chr 5
allele count: 8
allele frequency: 9.10104434483857e-5
allele num: 87902
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.173G>C
  hgvsp: ENSP00000334267.3:p.Trp58Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+222C>G
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.173G>C
  hgvsp: ENSP00000408820.2:p.Trp58Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.173G>C
  hgvsp: ENSP00000424088.1:p.Trp58Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.173G>C
  hgvsp: ENSP00000380935.3:p.Trp58Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.173G>C
  hgvsp: ENSP00000426001.1:p.Trp58Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.173G>C
  hgvsp: ENSP00000425109.1:p.Trp58Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.173G>C
  hgvsp: ENSP00000426967.1:p.Trp58Ser
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28325
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp58Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/5-2752556-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752556
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752556
    reference: chr 5
allele count: 69
allele frequency: 7.667518613179242e-4
allele num: 89990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.178C>A
  hgvsp: ENST00000505106.1:c.178C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.178C>A
  hgvsp: ENST00000505778.1:c.178C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.178C>A
  hgvsp: ENST00000457752.2:c.178C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.178C>A
  hgvsp: ENST00000334000.3:c.178C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.178C>A
  hgvsp: ENST00000397835.4:c.178C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.178C>A
  hgvsp: ENST00000503940.1:c.178C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+217G>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.178C>A
  hgvsp: ENST00000515640.1:c.178C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 1.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28422
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14689
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Arg60Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

5-2752569-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752569
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752569
    reference: chr 5
allele count: 1
allele frequency: 1.052631578947368e-5
allele num: 95000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.191G>T
  hgvsp: ENSP00000380935.3:p.Arg64Met
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.191G>T
  hgvsp: ENSP00000334267.3:p.Arg64Met
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.191G>T
  hgvsp: ENSP00000425109.1:p.Arg64Met
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.191G>T
  hgvsp: ENSP00000426967.1:p.Arg64Met
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+204C>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.191G>T
  hgvsp: ENSP00000424088.1:p.Arg64Met
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.191G>T
  hgvsp: ENSP00000408820.2:p.Arg64Met
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.191G>T
  hgvsp: ENSP00000426001.1:p.Arg64Met
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg64Met
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

5-2752570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752570
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752570
    reference: chr 5
allele count: 75
allele frequency: 7.867573011077543e-4
allele num: 95328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.192G>A
  hgvsp: ENST00000397835.4:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+203C>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.192G>A
  hgvsp: ENST00000515640.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.192G>A
  hgvsp: ENST00000334000.3:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.192G>A
  hgvsp: ENST00000505106.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.192G>A
  hgvsp: ENST00000457752.2:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.192G>A
  hgvsp: ENST00000503940.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.192G>A
  hgvsp: ENST00000505778.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28288
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg64Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

5-2752574-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752574
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752574
    reference: chr 5
allele count: 1
allele frequency: 1.030651577927566e-5
allele num: 97026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.196C>G
  hgvsp: ENSP00000425109.1:p.Leu66Val
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+199G>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.196C>G
  hgvsp: ENSP00000380935.3:p.Leu66Val
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.196C>G
  hgvsp: ENSP00000426967.1:p.Leu66Val
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.196C>G
  hgvsp: ENSP00000426001.1:p.Leu66Val
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.196C>G
  hgvsp: ENSP00000334267.3:p.Leu66Val
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.196C>G
  hgvsp: ENSP00000408820.2:p.Leu66Val
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.196C>G
  hgvsp: ENSP00000424088.1:p.Leu66Val
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26814
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu66Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

5-2752580-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752580
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752580
    reference: chr 5
allele count: 1
allele frequency: 1.00565176290754e-5
allele num: 99438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+2T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+2T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+2T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+2T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+193A>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+2T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+2T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+2T>G
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 7.25e1
  variant carriers: 0
hgvs: c.200+2T>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-2752581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752581
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752581
    reference: chr 5
allele count: 1
allele frequency: 1.001401962747847e-5
allele num: 99860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+3G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+3G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+192C>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+3G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+3G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+3G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+3G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+3G>A
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
hgvs: c.200+3G>A
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/5-2752584-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752584
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752584
    reference: chr 5
allele count: 28
allele frequency: 2.78285759720124e-4
allele num: 100616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+6C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+6C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+6C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+189G>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+6C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+6C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+6C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+6C>A
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28663
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
hgvs: c.200+6C>A
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-2752584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752584
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752584
    reference: chr 5
allele count: 1
allele frequency: 9.938777132861572e-6
allele num: 100616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+6C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+6C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+6C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+189G>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+6C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+6C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+6C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+6C>T
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
hgvs: c.200+6C>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/5-2752601-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752601
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752601
    reference: chr 5
allele count: 2
allele frequency: 1.915121801746591e-5
allele num: 104432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+172G>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+23C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+23C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+23C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+23C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+23C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+23C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+23C>A
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9057
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

5-2752602-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752602
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752602
    reference: chr 5
allele count: 1
allele frequency: 9.559681089038869e-6
allele num: 104606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+24G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+24G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+24G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+24G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+24G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+24G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+24G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+171C>G
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27679
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-2752603-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752603
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752603
    reference: chr 5
allele count: 1
allele frequency: 9.521270518337968e-6
allele num: 105028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+25C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+25C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+25C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+170G>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+25C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+25C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+25C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+25C>A
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-2752604-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752604
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752604
    reference: chr 5
allele count: 1
allele frequency: 9.461633077869239e-6
allele num: 105690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+26A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+26A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+26A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+26A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+26A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+26A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+26A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+169T>C
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28079
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-2752606-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752606
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752606
    reference: chr 5
allele count: 2
allele frequency: 1.89411876124633e-5
allele num: 105590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+28C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+28C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+28C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+28C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+28C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+28C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+167G>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+28C>G
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27967
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

5-2752615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752615
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752615
    reference: chr 5
allele count: 1
allele frequency: 9.218459042386475e-6
allele num: 108478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+37C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+37C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+37C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+158G>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+37C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+37C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+37C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+37C>T
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29083
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

5-2752616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752616
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752616
    reference: chr 5
allele count: 1
allele frequency: 9.178859251372239e-6
allele num: 108946
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+38G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+38G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+38G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+38G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+157C>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+38G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+38G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+38G>A
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

5-2752617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752617
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752617
    reference: chr 5
allele count: 3
allele frequency: 2.740977615349475e-5
allele num: 109450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+39G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+39G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+39G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+156C>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+39G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+39G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+39G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+39G>A
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

5-2752621-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752621
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752621
    reference: chr 5
allele count: 69
allele frequency: 6.235766185880056e-4
allele num: 110652
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+43C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+43C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+43C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+43C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+152G>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+43C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+43C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+43C>G
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30428
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12584
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-2752622-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752622
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752622
    reference: chr 5
allele count: 65
allele frequency: 5.859868017741878e-4
allele num: 110924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+44C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+44C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+44C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+44C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+44C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+44C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+44C>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+151G>T
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 12720
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30523
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

5-2752625-A-AACGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752625
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752630
    reference: chr 5
allele count: 4
allele frequency: 3.575450953751542e-5
allele num: 111874
alternate allele: AACGTT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+51_200+55dupTTACG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+51_200+55dupTTACG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+51_200+55dupTTACG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+51_200+55dupTTACG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+143_197+147dupAACGT
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+51_200+55dupTTACG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+51_200+55dupTTACG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+51_200+55dupTTACG
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12947
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

5-2752630-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752630
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752630
    reference: chr 5
allele count: 10
allele frequency: 8.859279209043553e-5
allele num: 112876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.200+52T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+52T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.200+52T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+52T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.200+52T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.200+52T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+52T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+143A>G
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32001
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

5-2752685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752685
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752685
    reference: chr 5
allele count: 1
allele frequency: 8.41226845231085e-6
allele num: 118874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-51C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-51C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+107C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-51C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.200+107C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+88G>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.200+107C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-51C>T
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

5-2752687-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752687
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752687
    reference: chr 5
allele count: 1
allele frequency: 8.410853365182432e-6
allele num: 118894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-49C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+109C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+86G>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-49C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-107C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-107C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-49C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-49C>G
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

5-2752687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752687
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752687
    reference: chr 5
allele count: 5
allele frequency: 4.205426682591216e-5
allele num: 118894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-49C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-49C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-49C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-107C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-49C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+109C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-107C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+86G>A
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37745
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

5-2752688-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752688
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752688
    reference: chr 5
allele count: 1
allele frequency: 8.414533582403528e-6
allele num: 118842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-48T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+110T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-48T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-106T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-48T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-106T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-48T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+85A>C
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/5-2752689-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752689
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752689
    reference: chr 5
allele count: 1
allele frequency: 8.41283462049703e-6
allele num: 118866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+111A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-47A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-47A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-105A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-105A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+84T>G
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-47A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-47A>C
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37747
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-2752689-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752689
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752689
    reference: chr 5
allele count: 2
allele frequency: 1.682566924099406e-5
allele num: 118866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+84T>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-47A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+111A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-47A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-47A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-105A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-105A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-47A>G
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

5-2752693-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752693
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752693
    reference: chr 5
allele count: 1
allele frequency: 8.409155888931868e-6
allele num: 118918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+115A>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+80T>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-43A>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-43A>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-101A>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-43A>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-101A>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-43A>T
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6237
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

5-2752694-G-GTTTTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752694
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752699
    reference: chr 5
allele count: 1
allele frequency: 8.407600470825626e-6
allele num: 118940
alternate allele: GTTTTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-32_201-28dupATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-32_201-28dupATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+126_200+130dupATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-90_201-86dupATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-32_201-28dupATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-32_201-28dupATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+74_197+78dupTAAAA
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-90_201-86dupATTTT
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

5-2752694-GTTTTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752694
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752689
    reference: chr 5
allele count: 9
allele frequency: 7.566840423743063e-5
allele num: 118940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-32_201-28delATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-90_201-86delATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+74_197+78delTAAAA
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-32_201-28delATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-90_201-86delATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-32_201-28delATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-32_201-28delATTTT
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+126_200+130delATTTT
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: GTTTTA
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

5-2752698-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752698
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752698
    reference: chr 5
allele count: 2
allele frequency: 1.681378730559058e-5
allele num: 118950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-38T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+75A>G
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-96T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-38T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-38T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+120T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-38T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-96T>C
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37743
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

5-2752700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752700
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752700
    reference: chr 5
allele count: 2
allele frequency: 1.681350460690026e-5
allele num: 118952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-36T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-36T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-36T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-36T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-94T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+122T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-94T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+73A>G
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37744
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

5-2752704-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752704
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752704
    reference: chr 5
allele count: 2
allele frequency: 1.680870018321483e-5
allele num: 118986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-32A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-32A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+69T>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-32A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-90A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-90A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-32A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+126A>G
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37749
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

5-2752709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752709
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752709
    reference: chr 5
allele count: 3
allele frequency: 2.519907267412559e-5
allele num: 119052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-85G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+64C>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-27G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-85G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+131G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-27G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-27G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-27G>A
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

5-2752715-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752715
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752715
    reference: chr 5
allele count: 3
allele frequency: 2.517623363544814e-5
allele num: 119160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-79C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-21C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+137C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-21C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-79C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-21C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-21C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+58G>C
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-2752719-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752719
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752719
    reference: chr 5
allele count: 1
allele frequency: 8.380122349786308e-6
allele num: 119330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-75G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+141G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-17G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-75G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-17G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-17G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-17G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+54C>G
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-2752724-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752724
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752724
    reference: chr 5
allele count: 2
allele frequency: 1.673164120668596e-5
allele num: 119534
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.201-12C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+146C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+49G>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.201-12C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.201-12C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-70C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.201-12C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-70C>G
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

5-2752738-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752738
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752738
    reference: chr 5
allele count: 1
allele frequency: 8.34306691139663e-6
allele num: 119860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.203T>C
  hgvsp: ENSP00000380935.3:p.Phe68Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+35A>G
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.203T>C
  hgvsp: ENSP00000334267.3:p.Phe68Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.203T>C
  hgvsp: ENSP00000426967.1:p.Phe68Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+160T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-56T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.203T>C
  hgvsp: ENSP00000426001.1:p.Phe68Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-56T>C
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe68Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-2752739-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752739
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752739
    reference: chr 5
allele count: 1
allele frequency: 8.341953351796856e-6
allele num: 119876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-55T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.204T>G
  hgvsp: ENSP00000426967.1:p.Phe68Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+34A>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-55T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.204T>G
  hgvsp: ENSP00000380935.3:p.Phe68Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.204T>G
  hgvsp: ENSP00000334267.3:p.Phe68Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+161T>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.204T>G
  hgvsp: ENSP00000426001.1:p.Phe68Leu
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37751
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe68Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

5-2752755-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752755
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752756
    reference: chr 5
allele count: 1
allele frequency: 8.32209850035785e-6
allele num: 120162
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-33dupG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.226dupG
  hgvsp: ENSP00000426967.1:p.Asp76GlyfsTer2
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-33dupG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+183dupG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.226dupG
  hgvsp: ENSP00000334267.3:p.Asp76GlyfsTer2
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+17dupC
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.226dupG
  hgvsp: ENSP00000380935.3:p.Asp76GlyfsTer2
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.226dupG
  hgvsp: ENSP00000426001.1:p.Asp76GlyfsTer2
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37752
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp76GlyfsTer2
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

5-2752755-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752755
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752754
    reference: chr 5
allele count: 1
allele frequency: 8.32209850035785e-6
allele num: 120162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.226delG
  hgvsp: ENSP00000426001.1:p.Asp76MetfsTer5
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+17delC
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.226delG
  hgvsp: ENSP00000426967.1:p.Asp76MetfsTer5
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.226delG
  hgvsp: ENSP00000380935.3:p.Asp76MetfsTer5
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.226delG
  hgvsp: ENSP00000334267.3:p.Asp76MetfsTer5
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-33delG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-33delG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+183delG
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37752
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp76MetfsTer5
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: TG
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

5-2752771-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752771
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752771
    reference: chr 5
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-23A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+2T>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.236A>G
  hgvsp: ENSP00000426967.1:p.Tyr79Cys
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.236A>G
  hgvsp: ENSP00000380935.3:p.Tyr79Cys
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.236A>G
  hgvsp: ENSP00000334267.3:p.Tyr79Cys
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.236A>G
  hgvsp: ENSP00000426001.1:p.Tyr79Cys
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+193A>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-23A>G
  variant of: http://identifiers.org/hgnc/24226
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: n.197+2T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

5-2752772-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752772
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752772
    reference: chr 5
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.237C>T
  hgvsp: ENST00000397835.4:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-22C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.237C>T
  hgvsp: ENST00000334000.3:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.197+1G>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.237C>T
  hgvsp: ENST00000515640.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-22C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.237C>T
  hgvsp: ENST00000505778.1:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+194C>T
  variant of: http://identifiers.org/hgnc/24226
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 8.25e1
  variant carriers: 0
hgvs: n.197+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-2752777-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752777
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752777
    reference: chr 5
allele count: 2
allele frequency: 1.659035105182826e-5
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.242C>G
  hgvsp: ENSP00000334267.3:p.Thr81Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.193G>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.242C>G
  hgvsp: ENSP00000426967.1:p.Thr81Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-17C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.242C>G
  hgvsp: ENSP00000380935.3:p.Thr81Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.242C>G
  hgvsp: ENSP00000426001.1:p.Thr81Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-17C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+199C>G
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr81Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

5-2752787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752787
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752787
    reference: chr 5
allele count: 1
allele frequency: 8.292561572269675e-6
allele num: 120590
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.252C>T
  hgvsp: ENST00000397835.4:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.252C>T
  hgvsp: ENST00000505778.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.201-7C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.201-7C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.252C>T
  hgvsp: ENST00000515640.1:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.183G>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.252C>T
  hgvsp: ENST00000334000.3:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+209C>T
  variant of: http://identifiers.org/hgnc/24226
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 6.75e1
  variant carriers: 0
hgvs: c.201-7C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-2752802-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752802
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752802
    reference: chr 5
allele count: 18
allele frequency: 1.492661083008541e-4
allele num: 120590
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.267G>T
  hgvsp: ENSP00000334267.3:p.Lys89Asn
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.267G>T
  hgvsp: ENSP00000426967.1:p.Lys89Asn
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.267G>T
  hgvsp: ENSP00000426001.1:p.Lys89Asn
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.168C>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*2G>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*2G>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.267G>T
  hgvsp: ENSP00000380935.3:p.Lys89Asn
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+224G>T
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8470
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys89Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

5-2752803-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752803
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752803
    reference: chr 5
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.268C>G
  hgvsp: ENSP00000334267.3:p.Pro90Ala
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.167G>C
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.268C>G
  hgvsp: ENSP00000426001.1:p.Pro90Ala
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*3C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.268C>G
  hgvsp: ENSP00000380935.3:p.Pro90Ala
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+225C>G
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.268C>G
  hgvsp: ENSP00000426967.1:p.Pro90Ala
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*3C>G
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37747
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro90Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum

5-2752803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752803
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752803
    reference: chr 5
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.268C>T
  hgvsp: ENSP00000334267.3:p.Pro90Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.268C>T
  hgvsp: ENSP00000380935.3:p.Pro90Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+225C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.268C>T
  hgvsp: ENSP00000426001.1:p.Pro90Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.268C>T
  hgvsp: ENSP00000426967.1:p.Pro90Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.167G>A
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro90Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS

5-2752804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752804
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752804
    reference: chr 5
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.269C>T
  hgvsp: ENSP00000426967.1:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+226C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.269C>T
  hgvsp: ENSP00000380935.3:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.269C>T
  hgvsp: ENSP00000334267.3:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.166G>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.269C>T
  hgvsp: ENSP00000426001.1:p.Pro90Leu
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro90Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-2752805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752805
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752805
    reference: chr 5
allele count: 23
allele frequency: 1.907384064220792e-4
allele num: 120584
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.270T>C
  hgvsp: ENST00000334000.3:c.270T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.270T>C
  hgvsp: ENST00000397835.4:c.270T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.270T>C
  hgvsp: ENST00000505778.1:c.270T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+227T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.165A>G
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.270T>C
  hgvsp: ENST00000515640.1:c.270T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro90Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

5-2752810-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752810
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752810
    reference: chr 5
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.275G>C
  hgvsp: ENSP00000426967.1:p.Ser92Thr
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*10G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.275G>C
  hgvsp: ENSP00000334267.3:p.Ser92Thr
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.160C>G
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.275G>C
  hgvsp: ENSP00000380935.3:p.Ser92Thr
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*10G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+232G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.275G>C
  hgvsp: ENSP00000426001.1:p.Ser92Thr
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser92Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

5-2752818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752818
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752818
    reference: chr 5
allele count: 2
allele frequency: 1.659971448491086e-5
allele num: 120484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.283G>A
  hgvsp: ENSP00000426001.1:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.152C>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.283G>A
  hgvsp: ENSP00000334267.3:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.283G>A
  hgvsp: ENSP00000426967.1:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.283G>A
  hgvsp: ENSP00000380935.3:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+240G>A
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu95Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-2752824-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752824
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752824
    reference: chr 5
allele count: 9
allele frequency: 7.4719800747198e-5
allele num: 120450
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.289G>C
  hgvsp: ENSP00000334267.3:p.Gly97Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.289G>C
  hgvsp: ENSP00000426001.1:p.Gly97Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.146C>G
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.289G>C
  hgvsp: ENSP00000426967.1:p.Gly97Arg
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+246G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*24G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*24G>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.289G>C
  hgvsp: ENSP00000380935.3:p.Gly97Arg
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37745
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly97Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-2752843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752843
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752843
    reference: chr 5
allele count: 1
allele frequency: 8.314072398942449e-6
allele num: 120278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.308C>T
  hgvsp: ENSP00000426001.1:p.Ala103Val
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.308C>T
  hgvsp: ENSP00000380935.3:p.Ala103Val
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.308C>T
  hgvsp: ENSP00000334267.3:p.Ala103Val
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*43C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.308C>T
  hgvsp: ENSP00000426967.1:p.Ala103Val
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+265C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*43C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.127G>A
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7942
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala103Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-2752845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752845
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752845
    reference: chr 5
allele count: 27
allele frequency: 2.244724896493241e-4
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.310C>T
  hgvsp: ENSP00000426967.1:p.Pro104Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.310C>T
  hgvsp: ENSP00000426001.1:p.Pro104Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+267C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.310C>T
  hgvsp: ENSP00000334267.3:p.Pro104Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.310C>T
  hgvsp: ENSP00000380935.3:p.Pro104Ser
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.125G>A
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro104Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

5-2752847-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752847
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752847
    reference: chr 5
allele count: 11
allele frequency: 9.145175504231722e-5
allele num: 120282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.312G>A
  hgvsp: ENST00000505778.1:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.312G>A
  hgvsp: ENST00000397835.4:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.312G>A
  hgvsp: ENST00000334000.3:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+269G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*47G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.312G>A
  hgvsp: ENST00000515640.1:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.123C>T
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro104Pro
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-2752849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752849
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752849
    reference: chr 5
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.314C>T
  hgvsp: ENSP00000426001.1:p.Pro105Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.314C>T
  hgvsp: ENSP00000380935.3:p.Pro105Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.314C>T
  hgvsp: ENSP00000426967.1:p.Pro105Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.314C>T
  hgvsp: ENSP00000334267.3:p.Pro105Leu
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.121G>A
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+271C>T
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro105Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

5-2752850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752850
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752850
    reference: chr 5
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.315G>A
  hgvsp: ENST00000505778.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+272G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.315G>A
  hgvsp: ENST00000515640.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.120C>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.315G>A
  hgvsp: ENST00000334000.3:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.315G>A
  hgvsp: ENST00000397835.4:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*50G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*50G>A
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro105Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

5-2752860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752860
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752860
    reference: chr 5
allele count: 1
allele frequency: 8.32251406504877e-6
allele num: 120156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+282G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.110C>T
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.325G>A
  hgvsp: ENSP00000426967.1:p.Ala109Thr
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.325G>A
  hgvsp: ENSP00000334267.3:p.Ala109Thr
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.325G>A
  hgvsp: ENSP00000380935.3:p.Ala109Thr
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*60G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*60G>A
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.325G>A
  hgvsp: ENSP00000426001.1:p.Ala109Thr
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala109Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

5-2752867-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752867
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752866
    reference: chr 5
allele count: 2
allele frequency: 1.666500016665e-5
allele num: 120012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.333+1delG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*68+1delG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.333+1delG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*68+1delG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.102delC
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.333+1delG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.333+1delG
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+291delG
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: AG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

5-2752872-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752872
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752872
    reference: chr 5
allele count: 1
allele frequency: 8.334583520861462e-6
allele num: 119982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*68+4G>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.333+4G>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.333+4G>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+294G>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*68+4G>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.333+4G>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.333+4G>T
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.98C>A
  variant of: http://identifiers.org/hgnc/14359
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 2.25e1
  variant carriers: 0
hgvs: c.333+4G>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-2752876-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2752876
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 2752876
    reference: chr 5
allele count: 1
allele frequency: 8.346827370916315e-6
allele num: 119806
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000425109
  ensembl transcript: ENST00000503940
  gene symbol: C5orf38
  hgvsc: ENST00000503940.1:c.*68+8A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000170561
  ensembl transcript: ENST00000502957
  gene symbol: IRX2
  hgvsc: ENST00000502957.1:n.94T>G
  variant of: http://identifiers.org/hgnc/14359
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426001
  ensembl transcript: ENST00000515640
  gene symbol: C5orf38
  hgvsc: ENST00000515640.1:c.333+8A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000380935
  ensembl transcript: ENST00000397835
  gene symbol: C5orf38
  hgvsc: ENST00000397835.4:c.333+8A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000424088
  ensembl transcript: ENST00000505106
  gene symbol: C5orf38
  hgvsc: ENST00000505106.1:c.*68+8A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000334267
  ensembl transcript: ENST00000334000
  gene symbol: C5orf38
  hgvsc: ENST00000334000.3:c.333+8A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000426967
  ensembl transcript: ENST00000505778
  gene symbol: C5orf38
  hgvsc: ENST00000505778.1:c.333+8A>C
  variant of: http://identifiers.org/hgnc/24226
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000186493
  ensembl protein: ENSP00000408820
  ensembl transcript: ENST00000457752
  gene symbol: C5orf38
  hgvsc: ENST00000457752.2:c.200+298A>C
  variant of: http://identifiers.org/hgnc/24226
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.25e1
  variant carriers: 0
hgvs: c.333+8A>C
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1379
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 844
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 484
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2576
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 63
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1082
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 100
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1640
num of homozygotes: 0

African
type: Population
allele count: 36
allele frequency: 8.024966562639322e-3
allele num: 4486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 8.034279592929834e-4
allele num: 3734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10452
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

DP
type: SiteQuality
SIO_000300: 7.42316e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.135e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.197e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 14208
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.531645569620253e-4
allele num: 3950
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.055076037813399e-4
allele num: 4866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1932
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.102e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.78839e5

FS
type: SiteQuality
SIO_000300: 7.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 641
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2159
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.254572674607824e-5
allele num: 30726
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4584
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

DP
type: SiteQuality
SIO_000300: 8.00802e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.187e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1734
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25085
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
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variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 334
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.608378110490897e-5
allele num: 38338
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.71e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.431e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.971e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

DP
type: SiteQuality
SIO_000300: 9.10239e5

GenotypeQuality
all individuals: 1353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
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variant carriers: 1

GenotypeQuality
all individuals: 493
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variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.346720214190094e-4
allele num: 2988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39586
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 9.28855e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.31e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

GenotypeQuality
all individuals: 701
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 434
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.489296027083541e-5
allele num: 40172
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.389999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.235e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.381e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

FS
type: SiteQuality
SIO_000300: 6.368e0

DP
type: SiteQuality
SIO_000300: 9.37374e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 978
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

GenotypeQuality
all individuals: 947
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24769
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2183
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.669449081803005e-4
allele num: 5990
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.94977e5

VQSLOD
type: SiteQuality
SIO_000300: -1.269e0

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

FS
type: SiteQuality
SIO_000300: 2.438e0

QD
type: SiteQuality
SIO_000300: 5.65e0

GenotypeQuality
all individuals: 1159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24769
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.548969658372379e-5
allele num: 43966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

FS
type: SiteQuality
SIO_000300: 2.438e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.269e0

QD
type: SiteQuality
SIO_000300: 5.65e0

DP
type: SiteQuality
SIO_000300: 9.94977e5

GenotypeQuality
all individuals: 2124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.368615462998345e-5
allele num: 47106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.405e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

QD
type: SiteQuality
SIO_000300: 9.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.07e-1

FS
type: SiteQuality
SIO_000300: 3.805e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

DP
type: SiteQuality
SIO_000300: 1.038747e6

GenotypeQuality
all individuals: 768
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
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variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4130
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.538461538461538e-3
allele num: 650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.45681581685744e-4
allele num: 48050
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 3.833e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

DP
type: SiteQuality
SIO_000300: 1.052194e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 16590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 67

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 84
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variant carriers: 2

GenotypeQuality
all individuals: 737
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GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13344
num of homozygotes: 0

African
type: Population
allele count: 65
allele frequency: 9.1164095371669e-3
allele num: 7130
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.310536044362292e-4
allele num: 8656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.065040650406504e-5
allele num: 49200
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.068091e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 2.509e0

QD
type: SiteQuality
SIO_000300: 1.191e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

GenotypeQuality
all individuals: 14713
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1974
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 753
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GenotypeQuality
all individuals: 1798
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.924483276240329e-5
allele num: 51962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9270
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.075e1

MQRankSum
type: SiteQuality
SIO_000300: -1.077e0

VQSLOD
type: SiteQuality
SIO_000300: -9.69e-2

FS
type: SiteQuality
SIO_000300: 3.862e0

DP
type: SiteQuality
SIO_000300: 1.099999e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.205e0

GenotypeQuality
all individuals: 1966
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 14519
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variant carriers: 0

GenotypeQuality
all individuals: 90
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 742
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GenotypeQuality
all individuals: 941
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variant carriers: 1

GenotypeQuality
all individuals: 112
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GenotypeQuality
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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: 334
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variant carriers: 74

GenotypeQuality
all individuals: 28109
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.918354818907305e-5
allele num: 52128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13620
num of homozygotes: 0

African
type: Population
allele count: 71
allele frequency: 9.364283830123978e-3
allele num: 7582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.22234156820623e-4
allele num: 9310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

FS
type: SiteQuality
SIO_000300: 1.118e0

QD
type: SiteQuality
SIO_000300: 1.367e1

DP
type: SiteQuality
SIO_000300: 1.104084e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.320644216691069e-5
allele num: 13660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.823e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 4.44e0

DP
type: SiteQuality
SIO_000300: 1.115034e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.164e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.286e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2730
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.836277498255536e-5
allele num: 54458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-2

FS
type: SiteQuality
SIO_000300: 6.368e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.104e1

DP
type: SiteQuality
SIO_000300: 1.133758e6

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
all individuals: 1061
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GenotypeQuality
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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: 1020
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GenotypeQuality
all individuals: 754
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54698
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.22334585379948e-5
allele num: 13844
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7370
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.052e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.806e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

DP
type: SiteQuality
SIO_000300: 1.138846e6

GenotypeQuality
all individuals: 310
bin: 9.75e1
variant carriers: 28

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 3325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 24
allele frequency: 2.985074626865672e-3
allele num: 8040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.04040404040404e-4
allele num: 9900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.146074e6

FS
type: SiteQuality
SIO_000300: 1.169e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.248e1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.629e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 6.75e1
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: 7440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.242178447276941e-5
allele num: 13808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8040
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.629e0

FS
type: SiteQuality
SIO_000300: 1.169e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.248e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

DP
type: SiteQuality
SIO_000300: 1.146074e6

GenotypeQuality
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variant carriers: 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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57384
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.410800385728062e-4
allele num: 8296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

DP
type: SiteQuality
SIO_000300: 1.190408e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.785e1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

FS
type: SiteQuality
SIO_000300: 5.051e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

VQSLOD
type: SiteQuality
SIO_000300: -2.592e-1

GenotypeQuality
all individuals: 352
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 966
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GenotypeQuality
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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: 26927
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GenotypeQuality
all individuals: 1309
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.739675028704638e-5
allele num: 57482
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.262e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.24e-1

QD
type: SiteQuality
SIO_000300: 9.23e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.113e0

DP
type: SiteQuality
SIO_000300: 1.196736e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.197318007662835e-4
allele num: 8352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13924
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

FS
type: SiteQuality
SIO_000300: 2.199e0

VQSLOD
type: SiteQuality
SIO_000300: 9.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.014e0

DP
type: SiteQuality
SIO_000300: 1.200237e6

QD
type: SiteQuality
SIO_000300: 1.235e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 28375
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14048
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.283038234539389e-4
allele num: 7794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

FS
type: SiteQuality
SIO_000300: 2.141e0

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -3.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.206105e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.457e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.46e-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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variant carriers: 2

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10458
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.436988072998994e-4
allele num: 13918
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.413e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.211806e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30710
bin: 6.25e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.108330963889678e-5
allele num: 14068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.267905e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

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

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.301e1

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

GenotypeQuality
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GenotypeQuality
all individuals: 2471
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GenotypeQuality
all individuals: 386
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variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59924
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.150747986191024e-4
allele num: 8690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.275434e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

QD
type: SiteQuality
SIO_000300: 2.955e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.982726547967048e-5
allele num: 60208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.283e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

DP
type: SiteQuality
SIO_000300: 1.280977e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.891e0

MQRankSum
type: SiteQuality
SIO_000300: -6.23e-1

FS
type: SiteQuality
SIO_000300: 4.365e0

QD
type: SiteQuality
SIO_000300: 1.743e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 68

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14300
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.594536304816679e-4
allele num: 11128
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.385240352064996e-4
allele num: 8862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 60
allele frequency: 9.853834784036787e-4
allele num: 60890
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.201923076923077e-3
allele num: 832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.54320987654321e-4
allele num: 6480
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 1.308756e6

FS
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

QD
type: SiteQuality
SIO_000300: 1.334e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.806e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 65

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61046
num of homozygotes: 0

African
type: Population
allele count: 59
allele frequency: 6.645640910114891e-3
allele num: 8878
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.377307761247536e-4
allele num: 11158
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 5.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.755e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

DP
type: SiteQuality
SIO_000300: 1.315666e6

QD
type: SiteQuality
SIO_000300: 1.373e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 303
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.493928177154361e-5
allele num: 61596
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.427e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.243e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.332344e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.078e1

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 464
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 2875
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.447550423006401e-4
allele num: 62174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.848376934666484e-5
allele num: 14602
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.427e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

DP
type: SiteQuality
SIO_000300: 1.352458e6

FS
type: SiteQuality
SIO_000300: 3.507e0

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65352
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.126700159294204e-5
allele num: 16322
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 3.961e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.69e-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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65340
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.146000000000001e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.851599e6

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.323015735777278e-4
allele num: 11566
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9498
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65340
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 5.19e-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
all individuals: 1529
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.055520371543171e-4
allele num: 9474
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65302
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 2.851957e6

VQSLOD
type: SiteQuality
SIO_000300: 3.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.082e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.024e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.458e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 880
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5315
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531018433461939e-5
allele num: 65316
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.311e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 2.852835e6

FS
type: SiteQuality
SIO_000300: 3.318e0

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.109704641350211e-4
allele num: 9480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65316
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.852835e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 3.318e0

QD
type: SiteQuality
SIO_000300: 1.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9488
num of homozygotes: 0

European (Finnish)
type: Population
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: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530409231428484e-5
allele num: 65342
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 1.161e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.251e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.274e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 2.858004e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.99e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53003457878148e-5
allele num: 65358
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
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: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.041e1

FS
type: SiteQuality
SIO_000300: 1.508e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.184e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.035e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 2.859322e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 9

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

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.660322108345535e-4
allele num: 16392
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.593809441466367e-4
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65358
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: -5.035e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 2.859322e6

QD
type: SiteQuality
SIO_000300: 1.041e1

FS
type: SiteQuality
SIO_000300: 1.508e0

MQ
type: SiteQuality
SIO_000300: 5.184e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.058852318610058e-5
allele num: 65384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

DP
type: SiteQuality
SIO_000300: 2.861595e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.334e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

FS
type: SiteQuality
SIO_000300: 7.437e0

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
all individuals: 115
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65376
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.219660934260276e-4
allele num: 16398
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.863562e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.472e0

MQRankSum
type: SiteQuality
SIO_000300: 9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.420000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.88e0

QD
type: SiteQuality
SIO_000300: 1.73e1

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.059601028025946e-5
allele num: 65368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 16426
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.58e-1

FS
type: SiteQuality
SIO_000300: 5.154e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 2.86585e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

QD
type: SiteQuality
SIO_000300: 1.617e1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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: 11568
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.161888701517706e-4
allele num: 9488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 2.868279e6

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.042e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

FS
type: SiteQuality
SIO_000300: 4.866e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.0e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37753
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 6.75e1
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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.054927598215922e-5
allele num: 65468
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.871269e6

VQSLOD
type: SiteQuality
SIO_000300: -2.607e0

QD
type: SiteQuality
SIO_000300: 2.29e1

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

FS
type: SiteQuality
SIO_000300: 4.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.45e-1

GenotypeQuality
all individuals: 1026
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37751
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2401
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.91e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 1.995e0

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 2.875324e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3

GenotypeQuality
all individuals: 1491
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37752
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65720
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.481e1

DP
type: SiteQuality
SIO_000300: 2.878884e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

FS
type: SiteQuality
SIO_000300: 8.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 8306
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517358582180141e-5
allele num: 65904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

FS
type: SiteQuality
SIO_000300: 2.973e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 2.883912e6

QD
type: SiteQuality
SIO_000300: 1.63e1

GenotypeQuality
all individuals: 107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 9726
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517082347229808e-5
allele num: 65916
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

FS
type: SiteQuality
SIO_000300: 5.681e0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.093e-1

DP
type: SiteQuality
SIO_000300: 2.884e6

QD
type: SiteQuality
SIO_000300: 1.436e1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66024
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: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.032e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

DP
type: SiteQuality
SIO_000300: 2.888133e6

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

DP
type: SiteQuality
SIO_000300: 2.888133e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: -1.062e-1

DP
type: SiteQuality
SIO_000300: 2.890363e6

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1506
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.890398e6

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.341e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.884e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.61e-1

GenotypeQuality
all individuals: 1504
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2750
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37749
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.974723538704581e-4
allele num: 10128
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.322e1

FS
type: SiteQuality
SIO_000300: 1.329e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 2.890411e6

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

GenotypeQuality
all individuals: 2403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37748
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8442
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.830908375933936e-5
allele num: 10172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66184
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

DP
type: SiteQuality
SIO_000300: 2.890486e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

QD
type: SiteQuality
SIO_000300: 1.498e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

FS
type: SiteQuality
SIO_000300: 1.423e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.205e0

GenotypeQuality
all individuals: 2399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37753
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 3
allele frequency: 2.593809441466367e-4
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.471742543171115e-3
allele num: 10192
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.097e0

MQRankSum
type: SiteQuality
SIO_000300: -4.38e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.343e0

DP
type: SiteQuality
SIO_000300: 2.890263e6

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

GenotypeQuality
all individuals: 8463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66174
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

DP
type: SiteQuality
SIO_000300: 2.889278e6

FS
type: SiteQuality
SIO_000300: 7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.823e0

GenotypeQuality
all individuals: 636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8463
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37747
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2904
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66174
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.823e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 1.059e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

DP
type: SiteQuality
SIO_000300: 2.889278e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 7.68e-1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37747
bin: 9.75e1
variant carriers: 1

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: 10192
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66166
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.241e0

DP
type: SiteQuality
SIO_000300: 2.888775e6

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2269
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8387
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37752
bin: 9.75e1
variant carriers: 23

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

South Asian
type: Population
allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.593809441466367e-4
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.209080192243751e-4
allele num: 66166
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

DP
type: SiteQuality
SIO_000300: 2.890093e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 8325
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variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37745
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512035805007863e-5
allele num: 66136
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.114e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 2.887528e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.527e0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 8235
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variant carriers: 0

GenotypeQuality
all individuals: 2266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37744
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1546
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
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: 66072
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
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: 900
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.674e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.089e1

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

DP
type: SiteQuality
SIO_000300: 2.886243e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.211240310077519e-4
allele num: 66048
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.885767e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.332e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 3.459e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.65e-2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517312536036173e-5
allele num: 65906
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.882162e6

FS
type: SiteQuality
SIO_000300: 7.546e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.003e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.688e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

GenotypeQuality
all individuals: 897
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 27

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.857010213556175e-3
allele num: 8616
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: 10164
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65912
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

FS
type: SiteQuality
SIO_000300: 1.183e0

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

QD
type: SiteQuality
SIO_000300: 1.446e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.78e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.199e0

DP
type: SiteQuality
SIO_000300: 2.883964e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 915
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 8197
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37743
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2745
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 1

South Asian
type: Population
allele count: 8
allele frequency: 4.845548152634767e-4
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517128379403465e-5
allele num: 65914
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.412e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.989e0

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

DP
type: SiteQuality
SIO_000300: 2.883555e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.45e-2

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.144e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517404631118934e-5
allele num: 65902
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

FS
type: SiteQuality
SIO_000300: 6.751e0

QD
type: SiteQuality
SIO_000300: 1.34e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

DP
type: SiteQuality
SIO_000300: 2.882972e6

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 1

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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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.856100926473487e-5
allele num: 10146
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65896
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: 11564
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-1

DP
type: SiteQuality
SIO_000300: 2.882779e6

FS
type: SiteQuality
SIO_000300: 1.897e0

QD
type: SiteQuality
SIO_000300: 1.238e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65830
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

DP
type: SiteQuality
SIO_000300: 2.881131e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.115e0

FS
type: SiteQuality
SIO_000300: 6.414e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 169
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variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65718
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.980982567353407e-4
allele num: 10096
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.385e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

FS
type: SiteQuality
SIO_000300: 4.91e-1

DP
type: SiteQuality
SIO_000300: 2.876762e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.66e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 7737
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GenotypeQuality
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GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2392
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GenotypeQuality
all individuals: 2746
bin: 9.25e1
variant carriers: 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: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65698
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.009e1

DP
type: SiteQuality
SIO_000300: 2.875595e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.035e0

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1