17-38788433-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788433
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788433
    reference: chr 17
allele count: 1
allele frequency: 8.564136820649846e-6
allele num: 116766
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.714+14A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.609+14A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*1062+14A>G
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.814A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.154+14A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.504+14A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.504+14A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000392958
  ensembl transcript: ENST00000447024
  gene symbol: SMARCE1
  hgvsc: ENST00000447024.1:c.96+14A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*511+14A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.609+14A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.504+14A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.660+14A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.666+14A>G
  variant of: http://identifiers.org/hgnc/11109
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

17-38788442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788442
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788442
    reference: chr 17
allele count: 9
allele frequency: 7.613697888467786e-5
allele num: 118208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.660+5A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.504+5A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.714+5A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*511+5A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.666+5A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000392958
  ensembl transcript: ENST00000447024
  gene symbol: SMARCE1
  hgvsc: ENST00000447024.1:c.96+5A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.609+5A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.805A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.154+5A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.504+5A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.504+5A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.609+5A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*1062+5A>G
  variant of: http://identifiers.org/hgnc/28695
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24856
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.*1062+5A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ

17-38788455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788455
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788455
    reference: chr 17
allele count: 1
allele frequency: 8.333888925928395e-6
allele num: 119992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.652G>A
  hgvsp: ENSP00000445370.1:p.Val218Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*1054G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.496G>A
  hgvsp: ENSP00000411607.2:p.Val166Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.792G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.601G>A
  hgvsp: ENSP00000367039.4:p.Val201Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.146G>A
  hgvsp: ENSP00000466608.1:p.Val50Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000392958
  ensembl transcript: ENST00000447024
  gene symbol: SMARCE1
  hgvsc: ENST00000447024.1:c.88G>A
  hgvsp: ENSP00000392958.1:p.Val30Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.658G>A
  hgvsp: ENSP00000463216.1:p.Val220Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.496G>A
  hgvsp: ENSP00000464511.1:p.Val166Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.706G>A
  hgvsp: ENSP00000323967.6:p.Val236Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*503G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.601G>A
  hgvsp: ENSP00000462475.1:p.Val201Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.496G>A
  hgvsp: ENSP00000441857.1:p.Val166Ile
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val236Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-38788461-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788461
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788461
    reference: chr 17
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.700T>C
  hgvsp: ENST00000348513.6:c.700T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.595T>C
  hgvsp: ENST00000377808.4:c.595T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000392958
  ensembl transcript: ENST00000447024
  gene symbol: SMARCE1
  hgvsc: ENST00000447024.1:c.82T>C
  hgvsp: ENST00000447024.1:c.82T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.490T>C
  hgvsp: ENST00000400122.3:c.490T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.140T>C
  hgvsp: ENST00000264640.4:c.140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.595T>C
  hgvsp: ENST00000580419.1:c.595T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.490T>C
  hgvsp: ENST00000544009.1:c.490T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.490T>C
  hgvsp: ENST00000578044.1:c.490T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.646T>C
  hgvsp: ENST00000431889.2:c.646T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*497T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*1048T>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.786T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.652T>C
  hgvsp: ENST00000478349.2:c.652T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu234Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

17-38788465-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788465
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788465
    reference: chr 17
allele count: 3
allele frequency: 2.48541887592789e-5
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.486G>A
  hgvsp: ENST00000544009.1:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.696G>A
  hgvsp: ENST00000348513.6:c.696G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.486G>A
  hgvsp: ENST00000400122.3:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*493G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.648G>A
  hgvsp: ENST00000478349.2:c.648G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000392958
  ensembl transcript: ENST00000447024
  gene symbol: SMARCE1
  hgvsc: ENST00000447024.1:c.78G>A
  hgvsp: ENST00000447024.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.136G>A
  hgvsp: ENST00000264640.4:c.136G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.591G>A
  hgvsp: ENST00000580419.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.591G>A
  hgvsp: ENST00000377808.4:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.642G>A
  hgvsp: ENST00000431889.2:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.486G>A
  hgvsp: ENST00000578044.1:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.782G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*1044G>A
  variant of: http://identifiers.org/hgnc/28695
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln232Gln
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-38788469-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788469
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788469
    reference: chr 17
allele count: 328
allele frequency: 2.752231993018728e-3
allele num: 119176
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.692T>G
  hgvsp: ENSP00000323967.6:p.Val231Gly
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000392958
  ensembl transcript: ENST00000447024
  gene symbol: SMARCE1
  hgvsc: ENST00000447024.1:c.74T>G
  hgvsp: ENSP00000392958.1:p.Val25Gly
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.778T>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.482T>G
  hgvsp: ENSP00000464511.1:p.Val161Gly
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*489T>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.482T>G
  hgvsp: ENSP00000411607.2:p.Val161Gly
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.638T>G
  hgvsp: ENSP00000445370.1:p.Val213Gly
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.132T>G
  hgvsp: ENSP00000466608.1:p.Val45Gly
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.587T>G
  hgvsp: ENSP00000462475.1:p.Val196Gly
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.587T>G
  hgvsp: ENSP00000367039.4:p.Val196Gly
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.482T>G
  hgvsp: ENSP00000441857.1:p.Val161Gly
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*1040T>G
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.644T>G
  hgvsp: ENSP00000463216.1:p.Val215Gly
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Val231Gly
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: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

17-38788475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788475
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788475
    reference: chr 17
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.476G>A
  hgvsp: ENSP00000441857.1:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.581G>A
  hgvsp: ENSP00000367039.4:p.Arg194Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.476G>A
  hgvsp: ENSP00000411607.2:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.581G>A
  hgvsp: ENSP00000462475.1:p.Arg194Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.126G>A
  hgvsp: ENSP00000466608.1:p.Arg43Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000392958
  ensembl transcript: ENST00000447024
  gene symbol: SMARCE1
  hgvsc: ENST00000447024.1:c.68G>A
  hgvsp: ENSP00000392958.1:p.Arg23Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.686G>A
  hgvsp: ENSP00000323967.6:p.Arg229Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*483G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.632G>A
  hgvsp: ENSP00000445370.1:p.Arg211Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.638G>A
  hgvsp: ENSP00000463216.1:p.Arg213Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.772G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*1034G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.476G>A
  hgvsp: ENSP00000464511.1:p.Arg159Gln
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg229Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

17-38788486-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788486
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788486
    reference: chr 17
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*1023G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.675G>A
  hgvsp: ENST00000348513.6:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000392958
  ensembl transcript: ENST00000447024
  gene symbol: SMARCE1
  hgvsc: ENST00000447024.1:c.57G>A
  hgvsp: ENST00000447024.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.570G>A
  hgvsp: ENST00000580419.1:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.570G>A
  hgvsp: ENST00000377808.4:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*472G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.621G>A
  hgvsp: ENST00000431889.2:c.621G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.115G>A
  hgvsp: ENST00000264640.4:c.115G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.465G>A
  hgvsp: ENST00000544009.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.465G>A
  hgvsp: ENST00000578044.1:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.627G>A
  hgvsp: ENST00000478349.2:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.761G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.465G>A
  hgvsp: ENST00000400122.3:c.465G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26007
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln225Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-38788518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788518
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788518
    reference: chr 17
allele count: 5
allele frequency: 4.12044896411913e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*440G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.643G>A
  hgvsp: ENSP00000323967.6:p.Val215Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.589G>A
  hgvsp: ENSP00000445370.1:p.Val197Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.433G>A
  hgvsp: ENSP00000464511.1:p.Val145Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000392958
  ensembl transcript: ENST00000447024
  gene symbol: SMARCE1
  hgvsc: ENST00000447024.1:c.25G>A
  hgvsp: ENSP00000392958.1:p.Val9Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.83G>A
  hgvsp: ENSP00000466608.1:p.Val29Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.595G>A
  hgvsp: ENSP00000463216.1:p.Val199Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.538G>A
  hgvsp: ENSP00000462475.1:p.Val180Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*991G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.729G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.433G>A
  hgvsp: ENSP00000411607.2:p.Val145Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.538G>A
  hgvsp: ENSP00000367039.4:p.Val180Ile
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.433G>A
  hgvsp: ENSP00000441857.1:p.Val145Ile
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val215Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-38788519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788519
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788519
    reference: chr 17
allele count: 12
allele frequency: 9.888914526815439e-5
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*990C>T
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.432C>T
  hgvsp: ENST00000400122.3:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.642C>T
  hgvsp: ENST00000348513.6:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.537C>T
  hgvsp: ENST00000377808.4:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.588C>T
  hgvsp: ENST00000431889.2:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.594C>T
  hgvsp: ENST00000478349.2:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.432C>T
  hgvsp: ENST00000544009.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.432C>T
  hgvsp: ENST00000578044.1:c.432C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.537C>T
  hgvsp: ENST00000580419.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000392958
  ensembl transcript: ENST00000447024
  gene symbol: SMARCE1
  hgvsc: ENST00000447024.1:c.24C>T
  hgvsp: ENST00000447024.1:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.728C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.82C>T
  hgvsp: ENST00000264640.4:c.82C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*439C>T
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp214Asp
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-38788531-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788531
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788531
    reference: chr 17
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*978T>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.630T>A
  hgvsp: ENSP00000323967.6:p.Ser210Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*427T>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.525T>A
  hgvsp: ENSP00000367039.4:p.Ser175Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.576T>A
  hgvsp: ENSP00000445370.1:p.Ser192Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.716T>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000392958
  ensembl transcript: ENST00000447024
  gene symbol: SMARCE1
  hgvsc: ENST00000447024.1:c.12T>A
  hgvsp: ENSP00000392958.1:p.Ser4Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.420T>A
  hgvsp: ENSP00000411607.2:p.Ser140Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.420T>A
  hgvsp: ENSP00000441857.1:p.Ser140Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.420T>A
  hgvsp: ENSP00000464511.1:p.Ser140Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.525T>A
  hgvsp: ENSP00000462475.1:p.Ser175Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.582T>A
  hgvsp: ENSP00000463216.1:p.Ser194Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.70T>A
  hgvsp: ENSP00000466608.1:p.Ser24Arg
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser210Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

17-38788559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788559
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788559
    reference: chr 17
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.497G>A
  hgvsp: ENSP00000462475.1:p.Arg166His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.392G>A
  hgvsp: ENSP00000464511.1:p.Arg131His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.548G>A
  hgvsp: ENSP00000445370.1:p.Arg183His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.42G>A
  hgvsp: ENSP00000466608.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.392G>A
  hgvsp: ENSP00000411607.2:p.Arg131His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.392G>A
  hgvsp: ENSP00000441857.1:p.Arg131His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*399G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.688G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.497G>A
  hgvsp: ENSP00000367039.4:p.Arg166His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*950G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.554G>A
  hgvsp: ENSP00000463216.1:p.Arg185His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.602G>A
  hgvsp: ENSP00000323967.6:p.Arg201His
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg201His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

17-38788579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788579
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788579
    reference: chr 17
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.372C>T
  hgvsp: ENST00000400122.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*379C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.528C>T
  hgvsp: ENST00000431889.2:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.668C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.477C>T
  hgvsp: ENST00000377808.4:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.477C>T
  hgvsp: ENST00000580419.1:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.372C>T
  hgvsp: ENST00000578044.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.372C>T
  hgvsp: ENST00000544009.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.534C>T
  hgvsp: ENST00000478349.2:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.582C>T
  hgvsp: ENST00000348513.6:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*930C>T
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.22C>T
  hgvsp: ENST00000264640.4:c.22C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala194Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-38788581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788581
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788581
    reference: chr 17
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.526G>A
  hgvsp: ENSP00000445370.1:p.Ala176Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*928G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.580G>A
  hgvsp: ENSP00000323967.6:p.Ala194Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.370G>A
  hgvsp: ENSP00000441857.1:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.532G>A
  hgvsp: ENSP00000463216.1:p.Ala178Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.20G>A
  hgvsp: ENSP00000466608.1:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.666G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.475G>A
  hgvsp: ENSP00000367039.4:p.Ala159Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.370G>A
  hgvsp: ENSP00000411607.2:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.370G>A
  hgvsp: ENSP00000464511.1:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.475G>A
  hgvsp: ENSP00000462475.1:p.Ala159Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*377G>A
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala194Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-38788582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788582
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788582
    reference: chr 17
allele count: 10
allele frequency: 8.254911672445105e-5
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.525C>T
  hgvsp: ENST00000431889.2:c.525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.369C>T
  hgvsp: ENST00000544009.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.665C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.369C>T
  hgvsp: ENST00000400122.3:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.19C>T
  hgvsp: ENST00000264640.4:c.19C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.531C>T
  hgvsp: ENST00000478349.2:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.579C>T
  hgvsp: ENST00000348513.6:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.474C>T
  hgvsp: ENST00000377808.4:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.369C>T
  hgvsp: ENST00000578044.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.474C>T
  hgvsp: ENST00000580419.1:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*376C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*927C>T
  variant of: http://identifiers.org/hgnc/28695
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr193Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

17-38788599-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788599
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788599
    reference: chr 17
allele count: 7
allele frequency: 5.798349955269872e-5
allele num: 120724
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.562A>G
  hgvsp: ENSP00000323967.6:p.Met188Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.352A>G
  hgvsp: ENSP00000411607.2:p.Met118Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000466608
  ensembl transcript: ENST00000264640
  gene symbol: SMARCE1
  hgvsc: ENST00000264640.4:c.2A>G
  hgvsp: ENSP00000466608.1:p.Met2Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.352A>G
  hgvsp: ENSP00000464511.1:p.Met118Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.352A>G
  hgvsp: ENSP00000441857.1:p.Met118Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*910A>G
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.457A>G
  hgvsp: ENSP00000462475.1:p.Met153Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.648A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.457A>G
  hgvsp: ENSP00000367039.4:p.Met153Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.508A>G
  hgvsp: ENSP00000445370.1:p.Met170Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.514A>G
  hgvsp: ENSP00000463216.1:p.Met172Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*359A>G
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Met188Val
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-38788612-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788612
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788612
    reference: chr 17
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.444T>C
  hgvsp: ENST00000377808.4:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.444T>C
  hgvsp: ENST00000580419.1:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*897T>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.501T>C
  hgvsp: ENST00000478349.2:c.501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.339T>C
  hgvsp: ENST00000400122.3:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.339T>C
  hgvsp: ENST00000544009.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.549T>C
  hgvsp: ENST00000348513.6:c.549T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.635T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.495T>C
  hgvsp: ENST00000431889.2:c.495T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.339T>C
  hgvsp: ENST00000578044.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*346T>C
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp183Asp
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ

17-38788616-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788616
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788616
    reference: chr 17
allele count: 1
allele frequency: 8.341953351796856e-6
allele num: 119876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.335A>T
  hgvsp: ENSP00000441857.1:p.Tyr112Phe
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.491A>T
  hgvsp: ENSP00000445370.1:p.Tyr164Phe
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.497A>T
  hgvsp: ENSP00000463216.1:p.Tyr166Phe
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.440A>T
  hgvsp: ENSP00000367039.4:p.Tyr147Phe
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.335A>T
  hgvsp: ENSP00000464511.1:p.Tyr112Phe
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.631A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*342A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.335A>T
  hgvsp: ENSP00000411607.2:p.Tyr112Phe
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.545A>T
  hgvsp: ENSP00000323967.6:p.Tyr182Phe
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.440A>T
  hgvsp: ENSP00000462475.1:p.Tyr147Phe
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*893A>T
  variant of: http://identifiers.org/hgnc/28695
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr182Phe
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-38788630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788630
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788630
    reference: chr 17
allele count: 4
allele frequency: 3.36089265308866e-5
allele num: 119016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.437-11G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*890-11G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.494-11G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.332-11G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.437-11G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.488-11G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.332-11G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.332-11G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.542-11G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*339-11G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.628-11G>A
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24770
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12834
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-38788647-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788647
    reference: chr 17
allele count: 1
allele frequency: 8.491415179253775e-6
allele num: 117766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*339-28G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.332-28G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.437-28G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*890-28G>T
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.332-28G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.332-28G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.437-28G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.542-28G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.494-28G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.488-28G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.628-28G>T
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4515
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-38788651-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788651
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788651
    reference: chr 17
allele count: 1
allele frequency: 8.500221005746149e-6
allele num: 117644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.332-32A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*339-32A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.437-32A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.332-32A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*890-32A>G
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.494-32A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.332-32A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.488-32A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.542-32A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.628-32A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.437-32A>G
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6202
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/17-38788653-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788653
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788652
    reference: chr 17
allele count: 1
allele frequency: 8.531986417077625e-6
allele num: 117206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.332-35delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.332-35delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.494-35delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.437-35delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.542-35delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*890-35delG
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.332-35delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.628-35delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.437-35delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.488-35delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*339-35delG
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: AC
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

17-38788654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788654
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788654
    reference: chr 17
allele count: 5
allele frequency: 4.269927752822422e-5
allele num: 117098
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*890-35G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.437-35G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.542-35G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.628-35G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.488-35G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.332-35G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.332-35G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.332-35G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*339-35G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.437-35G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.494-35G>A
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6201
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18732
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5019
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

17-38788659-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788659
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788659
    reference: chr 17
allele count: 1
allele frequency: 8.583690987124463e-6
allele num: 116500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.488-40T>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.332-40T>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.628-40T>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.542-40T>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.332-40T>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*890-40T>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.494-40T>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.437-40T>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.437-40T>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*339-40T>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.332-40T>A
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-38788663-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38788663
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38788663
    reference: chr 17
allele count: 1
allele frequency: 8.620689655172414e-6
allele num: 116000
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.542-44T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.488-44T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.628-44T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.437-44T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.494-44T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.332-44T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.332-44T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.437-44T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*890-44T>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.332-44T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*339-44T>C
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

17-38792132-ATCTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792132
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792128
    reference: chr 17
allele count: 12
allele frequency: 1.048163094177454e-4
allele num: 114486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*338+47_*338+50delAAGA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.436+47_436+50delAAGA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.569_572delAAGA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.541+47_541+50delAAGA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*889+47_*889+50delAAGA
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.331+47_331+50delAAGA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.331+47_331+50delAAGA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.436+47_436+50delAAGA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.487+47_487+50delAAGA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.493+47_493+50delAAGA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.331+47_331+50delAAGA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.627+47_627+50delAAGA
  variant of: http://identifiers.org/hgnc/11109
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: ATCTT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-38792137-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792135
    reference: chr 17
allele count: 12
allele frequency: 1.048163094177454e-4
allele num: 114486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.436+44_436+45delGT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.331+44_331+45delGT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.331+44_331+45delGT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.493+44_493+45delGT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.331+44_331+45delGT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.487+44_487+45delGT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*338+44_*338+45delGT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*889+44_*889+45delGT
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.566_567delGT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.627+44_627+45delGT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.436+44_436+45delGT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.541+44_541+45delGT
  variant of: http://identifiers.org/hgnc/11109
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12855
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: AAC
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-38792140-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792140
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792140
    reference: chr 17
allele count: 1
allele frequency: 8.72965989245059e-6
allele num: 114552
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*889+43A>T
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.436+43A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.627+43A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.331+43A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.436+43A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.331+43A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.487+43A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.565A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.331+43A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.493+43A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*338+43A>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.541+43A>T
  variant of: http://identifiers.org/hgnc/11109
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12863
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

17-38792148-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792148
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792148
    reference: chr 17
allele count: 9
allele frequency: 7.836444692114795e-5
allele num: 114848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.436+35T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.331+35T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.493+35T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.557T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.627+35T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.331+35T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.436+35T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*889+35T>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.541+35T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*338+35T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.487+35T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.331+35T>C
  variant of: http://identifiers.org/hgnc/11109
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12902
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-38792157-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792157
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792156
    reference: chr 17
allele count: 1
allele frequency: 8.667013347200554e-6
allele num: 115380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.436+25delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.541+25delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*338+25delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.627+25delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.436+25delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.493+25delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.547delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*889+25delG
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.331+25delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.331+25delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.487+25delG
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.331+25delG
  variant of: http://identifiers.org/hgnc/11109
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: AC
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-38792168-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792168
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792167
    reference: chr 17
allele count: 1
allele frequency: 8.574564412127864e-6
allele num: 116624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.536delA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.541+14delA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.436+14delA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.487+14delA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.627+14delA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.436+14delA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.331+14delA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.331+14delA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.493+14delA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*338+14delA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.331+14delA
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*889+14delA
  variant of: http://identifiers.org/hgnc/28695
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 13044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: CT
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

17-38792193-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792193
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792193
    reference: chr 17
allele count: 2
allele frequency: 1.663644379377464e-5
allele num: 120218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.477A>G
  hgvsp: ENST00000431889.2:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.426A>G
  hgvsp: ENST00000580419.1:c.426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.531A>G
  hgvsp: ENST00000348513.6:c.531A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.426A>G
  hgvsp: ENST00000377808.4:c.426A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.321A>G
  hgvsp: ENST00000578044.1:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.321A>G
  hgvsp: ENST00000400122.3:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*879A>G
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.617A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.321A>G
  hgvsp: ENST00000544009.1:c.321A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.534A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*328A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.483A>G
  hgvsp: ENST00000478349.2:c.483A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.512A>G
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu177Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-38792199-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792199
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792199
    reference: chr 17
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.525T>C
  hgvsp: ENST00000348513.6:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.420T>C
  hgvsp: ENST00000377808.4:c.420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.528T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.315T>C
  hgvsp: ENST00000544009.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.315T>C
  hgvsp: ENST00000578044.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*322T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*873T>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.315T>C
  hgvsp: ENST00000400122.3:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.420T>C
  hgvsp: ENST00000580419.1:c.420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.471T>C
  hgvsp: ENST00000431889.2:c.471T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.611T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.477T>C
  hgvsp: ENST00000478349.2:c.477T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.506T>C
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro175Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

17-38792202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792202
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792202
    reference: chr 17
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.417G>A
  hgvsp: ENST00000377808.4:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.525G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.417G>A
  hgvsp: ENST00000580419.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.474G>A
  hgvsp: ENST00000478349.2:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.522G>A
  hgvsp: ENST00000348513.6:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.312G>A
  hgvsp: ENST00000578044.1:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.503G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.608G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.312G>A
  hgvsp: ENST00000544009.1:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*319G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.468G>A
  hgvsp: ENST00000431889.2:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.312G>A
  hgvsp: ENST00000400122.3:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*870G>A
  variant of: http://identifiers.org/hgnc/28695
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln174Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

17-38792208-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792208
    reference: chr 17
allele count: 2
allele frequency: 1.654150263009892e-5
allele num: 120908
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.468C>T
  hgvsp: ENST00000478349.2:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.306C>T
  hgvsp: ENST00000578044.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.411C>T
  hgvsp: ENST00000377808.4:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.516C>T
  hgvsp: ENST00000348513.6:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.462C>T
  hgvsp: ENST00000431889.2:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.306C>T
  hgvsp: ENST00000544009.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.306C>T
  hgvsp: ENST00000400122.3:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*864C>T
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.519C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.411C>T
  hgvsp: ENST00000580419.1:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.602C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.497C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*313C>T
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ser172Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-38792218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792218
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792218
    reference: chr 17
allele count: 3
allele frequency: 2.477577919825579e-5
allele num: 121086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.452C>T
  hgvsp: ENSP00000464061.1:p.Pro151Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.296C>T
  hgvsp: ENSP00000462857.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.401C>T
  hgvsp: ENSP00000462475.1:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.296C>T
  hgvsp: ENSP00000411607.2:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*854C>T
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.592C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.506C>T
  hgvsp: ENSP00000323967.6:p.Pro169Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*303C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.401C>T
  hgvsp: ENSP00000367039.4:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.452C>T
  hgvsp: ENSP00000445370.1:p.Pro151Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.296C>T
  hgvsp: ENSP00000464511.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.509C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.296C>T
  hgvsp: ENSP00000441857.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.458C>T
  hgvsp: ENSP00000463216.1:p.Pro153Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.487C>T
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13042
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro169Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

17-38792223-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792223
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792223
    reference: chr 17
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.482A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.291A>G
  hgvsp: ENST00000544009.1:c.291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.504A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.501A>G
  hgvsp: ENST00000348513.6:c.501A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.447A>G
  hgvsp: ENST00000580654.1:c.447A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.291A>G
  hgvsp: ENST00000400122.3:c.291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.291A>G
  hgvsp: ENST00000578044.1:c.291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.447A>G
  hgvsp: ENST00000431889.2:c.447A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.396A>G
  hgvsp: ENST00000580419.1:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.291A>G
  hgvsp: ENST00000577721.1:c.291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.396A>G
  hgvsp: ENST00000377808.4:c.396A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*298A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*849A>G
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.587A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.453A>G
  hgvsp: ENST00000478349.2:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly167Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-38792225-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792225
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792225
    reference: chr 17
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.499G>C
  hgvsp: ENSP00000323967.6:p.Gly167Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*296G>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.394G>C
  hgvsp: ENSP00000462475.1:p.Gly132Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.445G>C
  hgvsp: ENSP00000464061.1:p.Gly149Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.451G>C
  hgvsp: ENSP00000463216.1:p.Gly151Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.289G>C
  hgvsp: ENSP00000411607.2:p.Gly97Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.289G>C
  hgvsp: ENSP00000464511.1:p.Gly97Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.289G>C
  hgvsp: ENSP00000462857.1:p.Gly97Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.445G>C
  hgvsp: ENSP00000445370.1:p.Gly149Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*847G>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.585G>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.394G>C
  hgvsp: ENSP00000367039.4:p.Gly132Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.480G>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.502G>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.289G>C
  hgvsp: ENSP00000441857.1:p.Gly97Arg
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly167Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

17-38792234-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792234
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792234
    reference: chr 17
allele count: 5
allele frequency: 4.123983438082513e-5
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.385A>G
  hgvsp: ENSP00000367039.4:p.Met129Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.576A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.493A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.436A>G
  hgvsp: ENSP00000464061.1:p.Met146Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.385A>G
  hgvsp: ENSP00000462475.1:p.Met129Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*287A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.280A>G
  hgvsp: ENSP00000411607.2:p.Met94Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.280A>G
  hgvsp: ENSP00000441857.1:p.Met94Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.490A>G
  hgvsp: ENSP00000323967.6:p.Met164Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.442A>G
  hgvsp: ENSP00000463216.1:p.Met148Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.280A>G
  hgvsp: ENSP00000464511.1:p.Met94Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.436A>G
  hgvsp: ENSP00000445370.1:p.Met146Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.280A>G
  hgvsp: ENSP00000462857.1:p.Met94Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.471A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*838A>G
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*420A>G
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met164Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-38792236-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792236
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792236
    reference: chr 17
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.278G>T
  hgvsp: ENSP00000462857.1:p.Arg93Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*418G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.574G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.491G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.278G>T
  hgvsp: ENSP00000464511.1:p.Arg93Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.488G>T
  hgvsp: ENSP00000323967.6:p.Arg163Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.278G>T
  hgvsp: ENSP00000411607.2:p.Arg93Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.440G>T
  hgvsp: ENSP00000463216.1:p.Arg147Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.469G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.383G>T
  hgvsp: ENSP00000367039.4:p.Arg128Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*836G>T
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.434G>T
  hgvsp: ENSP00000445370.1:p.Arg145Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*285G>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.278G>T
  hgvsp: ENSP00000441857.1:p.Arg93Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.434G>T
  hgvsp: ENSP00000464061.1:p.Arg145Leu
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.383G>T
  hgvsp: ENSP00000462475.1:p.Arg128Leu
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg163Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

17-38792236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792236
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792236
    reference: chr 17
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.278G>A
  hgvsp: ENSP00000464511.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*836G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.434G>A
  hgvsp: ENSP00000464061.1:p.Arg145His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.278G>A
  hgvsp: ENSP00000411607.2:p.Arg93His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.383G>A
  hgvsp: ENSP00000462475.1:p.Arg128His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.278G>A
  hgvsp: ENSP00000441857.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*418G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.278G>A
  hgvsp: ENSP00000462857.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.440G>A
  hgvsp: ENSP00000463216.1:p.Arg147His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.574G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*285G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.434G>A
  hgvsp: ENSP00000445370.1:p.Arg145His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.383G>A
  hgvsp: ENSP00000367039.4:p.Arg128His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.488G>A
  hgvsp: ENSP00000323967.6:p.Arg163His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.469G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.491G>A
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg163His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

17-38792237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792237
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792237
    reference: chr 17
allele count: 3
allele frequency: 2.473696362017217e-5
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*835C>T
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.439C>T
  hgvsp: ENSP00000463216.1:p.Arg147Cys
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.433C>T
  hgvsp: ENSP00000464061.1:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.382C>T
  hgvsp: ENSP00000367039.4:p.Arg128Cys
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.277C>T
  hgvsp: ENSP00000441857.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.382C>T
  hgvsp: ENSP00000462475.1:p.Arg128Cys
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.433C>T
  hgvsp: ENSP00000445370.1:p.Arg145Cys
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.573C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.277C>T
  hgvsp: ENSP00000464511.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*417C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.468C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.490C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.277C>T
  hgvsp: ENSP00000411607.2:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.487C>T
  hgvsp: ENSP00000323967.6:p.Arg163Cys
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.277C>T
  hgvsp: ENSP00000462857.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*284C>T
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg163Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-38792251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792251
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792251
    reference: chr 17
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.476G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*821G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.559G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.263G>A
  hgvsp: ENSP00000441857.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.425G>A
  hgvsp: ENSP00000463216.1:p.Arg142Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.473G>A
  hgvsp: ENSP00000323967.6:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.263G>A
  hgvsp: ENSP00000411607.2:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.368G>A
  hgvsp: ENSP00000367039.4:p.Arg123Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.419G>A
  hgvsp: ENSP00000445370.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.419G>A
  hgvsp: ENSP00000464061.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.454G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*403G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.263G>A
  hgvsp: ENSP00000464511.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.368G>A
  hgvsp: ENSP00000462475.1:p.Arg123Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.263G>A
  hgvsp: ENSP00000462857.1:p.Arg88Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*270G>A
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg158Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-38792269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792269
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792269
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.455C>T
  hgvsp: ENSP00000323967.6:p.Ala152Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*385C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.401C>T
  hgvsp: ENSP00000464061.1:p.Ala134Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.245C>T
  hgvsp: ENSP00000441857.1:p.Ala82Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.401C>T
  hgvsp: ENSP00000445370.1:p.Ala134Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.245C>T
  hgvsp: ENSP00000464511.1:p.Ala82Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.350C>T
  hgvsp: ENSP00000367039.4:p.Ala117Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.407C>T
  hgvsp: ENSP00000463216.1:p.Ala136Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*803C>T
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.350C>T
  hgvsp: ENSP00000462475.1:p.Ala117Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.245C>T
  hgvsp: ENSP00000462857.1:p.Ala82Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.541C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.245C>T
  hgvsp: ENSP00000411607.2:p.Ala82Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*252C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.436C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.458C>T
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala152Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-38792271-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792271
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792271
    reference: chr 17
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.348T>C
  hgvsp: ENST00000580419.1:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.399T>C
  hgvsp: ENST00000580654.1:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.434T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.348T>C
  hgvsp: ENST00000377808.4:c.348T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.456T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.453T>C
  hgvsp: ENST00000348513.6:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.243T>C
  hgvsp: ENST00000578044.1:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.405T>C
  hgvsp: ENST00000478349.2:c.405T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.243T>C
  hgvsp: ENST00000544009.1:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.243T>C
  hgvsp: ENST00000400122.3:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.399T>C
  hgvsp: ENST00000431889.2:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*383T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.539T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.243T>C
  hgvsp: ENST00000577721.1:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*250T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*801T>C
  variant of: http://identifiers.org/hgnc/28695
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8454
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala151Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

17-38792281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792281
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792281
    reference: chr 17
allele count: 3
allele frequency: 2.473410833539451e-5
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.233G>A
  hgvsp: ENSP00000462857.1:p.Arg78His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.233G>A
  hgvsp: ENSP00000441857.1:p.Arg78His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.233G>A
  hgvsp: ENSP00000464511.1:p.Arg78His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.233G>A
  hgvsp: ENSP00000411607.2:p.Arg78His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*791G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*373G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.443G>A
  hgvsp: ENSP00000323967.6:p.Arg148His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.529G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.338G>A
  hgvsp: ENSP00000367039.4:p.Arg113His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.389G>A
  hgvsp: ENSP00000445370.1:p.Arg130His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.424G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.389G>A
  hgvsp: ENSP00000464061.1:p.Arg130His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.446G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.395G>A
  hgvsp: ENSP00000463216.1:p.Arg132His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.338G>A
  hgvsp: ENSP00000462475.1:p.Arg113His
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*240G>A
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg148His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

17-38792284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792284
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792284
    reference: chr 17
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.526G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.443G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.335G>A
  hgvsp: ENSP00000367039.4:p.Ser112Asn
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.421G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.230G>A
  hgvsp: ENSP00000462857.1:p.Ser77Asn
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.230G>A
  hgvsp: ENSP00000441857.1:p.Ser77Asn
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.392G>A
  hgvsp: ENSP00000463216.1:p.Ser131Asn
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.335G>A
  hgvsp: ENSP00000462475.1:p.Ser112Asn
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*788G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.386G>A
  hgvsp: ENSP00000464061.1:p.Ser129Asn
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.230G>A
  hgvsp: ENSP00000464511.1:p.Ser77Asn
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.440G>A
  hgvsp: ENSP00000323967.6:p.Ser147Asn
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.230G>A
  hgvsp: ENSP00000411607.2:p.Ser77Asn
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.386G>A
  hgvsp: ENSP00000445370.1:p.Ser129Asn
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*370G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*237G>A
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser147Asn
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS

17-38792287-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792287
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792287
    reference: chr 17
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.227A>G
  hgvsp: ENSP00000441857.1:p.Lys76Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.440A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.227A>G
  hgvsp: ENSP00000464511.1:p.Lys76Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*367A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.383A>G
  hgvsp: ENSP00000445370.1:p.Lys128Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.523A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.332A>G
  hgvsp: ENSP00000367039.4:p.Lys111Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.227A>G
  hgvsp: ENSP00000462857.1:p.Lys76Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.227A>G
  hgvsp: ENSP00000411607.2:p.Lys76Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*234A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.383A>G
  hgvsp: ENSP00000464061.1:p.Lys128Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*785A>G
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.332A>G
  hgvsp: ENSP00000462475.1:p.Lys111Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.437A>G
  hgvsp: ENSP00000323967.6:p.Lys146Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.389A>G
  hgvsp: ENSP00000463216.1:p.Lys130Arg
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.418A>G
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys146Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-38792297-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792297
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792297
    reference: chr 17
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.322A>G
  hgvsp: ENSP00000462475.1:p.Ile108Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.379A>G
  hgvsp: ENSP00000463216.1:p.Ile127Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.217A>G
  hgvsp: ENSP00000462857.1:p.Ile73Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*775A>G
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.217A>G
  hgvsp: ENSP00000441857.1:p.Ile73Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.427A>G
  hgvsp: ENSP00000323967.6:p.Ile143Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.217A>G
  hgvsp: ENSP00000464511.1:p.Ile73Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*357A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*224A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.430A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.373A>G
  hgvsp: ENSP00000445370.1:p.Ile125Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.322A>G
  hgvsp: ENSP00000367039.4:p.Ile108Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.217A>G
  hgvsp: ENSP00000411607.2:p.Ile73Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.373A>G
  hgvsp: ENSP00000464061.1:p.Ile125Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.513A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.408A>G
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile143Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

17-38792310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792310
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792310
    reference: chr 17
allele count: 5
allele frequency: 4.128955539406752e-5
allele num: 121096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.360G>A
  hgvsp: ENST00000580654.1:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.204G>A
  hgvsp: ENST00000578044.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.204G>A
  hgvsp: ENST00000400122.3:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.204G>A
  hgvsp: ENST00000544009.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.309G>A
  hgvsp: ENST00000377808.4:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.309G>A
  hgvsp: ENST00000580419.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*344G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.366G>A
  hgvsp: ENST00000478349.2:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*211G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.417G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.204G>A
  hgvsp: ENST00000577721.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.360G>A
  hgvsp: ENST00000431889.2:c.360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.500G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.414G>A
  hgvsp: ENST00000348513.6:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*762G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.395G>A
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala138Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

17-38792311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792311
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792311
    reference: chr 17
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.394C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.203C>T
  hgvsp: ENSP00000462857.1:p.Ala68Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.359C>T
  hgvsp: ENSP00000464061.1:p.Ala120Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.203C>T
  hgvsp: ENSP00000464511.1:p.Ala68Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.499C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*210C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.365C>T
  hgvsp: ENSP00000463216.1:p.Ala122Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.308C>T
  hgvsp: ENSP00000367039.4:p.Ala103Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.359C>T
  hgvsp: ENSP00000445370.1:p.Ala120Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.203C>T
  hgvsp: ENSP00000441857.1:p.Ala68Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*761C>T
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*343C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.308C>T
  hgvsp: ENSP00000462475.1:p.Ala103Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.416C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.203C>T
  hgvsp: ENSP00000411607.2:p.Ala68Val
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.413C>T
  hgvsp: ENSP00000323967.6:p.Ala138Val
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala138Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-38792312-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792312
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792312
    reference: chr 17
allele count: 3
allele frequency: 2.47827379968939e-5
allele num: 121052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.415G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.393G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.358G>A
  hgvsp: ENSP00000464061.1:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.307G>A
  hgvsp: ENSP00000462475.1:p.Ala103Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.202G>A
  hgvsp: ENSP00000462857.1:p.Ala68Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.202G>A
  hgvsp: ENSP00000464511.1:p.Ala68Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.202G>A
  hgvsp: ENSP00000441857.1:p.Ala68Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.202G>A
  hgvsp: ENSP00000411607.2:p.Ala68Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.307G>A
  hgvsp: ENSP00000367039.4:p.Ala103Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.358G>A
  hgvsp: ENSP00000445370.1:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.364G>A
  hgvsp: ENSP00000463216.1:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.412G>A
  hgvsp: ENSP00000323967.6:p.Ala138Thr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*342G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*209G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.498G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*760G>A
  variant of: http://identifiers.org/hgnc/28695
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala138Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

17-38792313-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792313
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792313
    reference: chr 17
allele count: 7
allele frequency: 5.782829951754676e-5
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.306C>T
  hgvsp: ENST00000377808.4:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.201C>T
  hgvsp: ENST00000578044.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.414C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.363C>T
  hgvsp: ENST00000478349.2:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.392C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.201C>T
  hgvsp: ENST00000544009.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.201C>T
  hgvsp: ENST00000400122.3:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.357C>T
  hgvsp: ENST00000431889.2:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.201C>T
  hgvsp: ENST00000577721.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.411C>T
  hgvsp: ENST00000348513.6:c.411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.306C>T
  hgvsp: ENST00000580419.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.357C>T
  hgvsp: ENST00000580654.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*208C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*759C>T
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*341C>T
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.497C>T
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro137Pro
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-38792337-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792337
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792337
    reference: chr 17
allele count: 1
allele frequency: 8.312690152787244e-6
allele num: 120298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.333T>C
  hgvsp: ENST00000431889.2:c.333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.282T>C
  hgvsp: ENST00000580419.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.177T>C
  hgvsp: ENST00000400122.3:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.387T>C
  hgvsp: ENST00000348513.6:c.387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.387T>C
  hgvsp: ENST00000582955.1:c.387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.390T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.455T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*735T>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.177T>C
  hgvsp: ENST00000544009.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.339T>C
  hgvsp: ENST00000478349.2:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.473T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.333T>C
  hgvsp: ENST00000580654.1:c.333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.177T>C
  hgvsp: ENST00000578044.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.282T>C
  hgvsp: ENST00000377808.4:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*184T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.177T>C
  hgvsp: ENST00000577721.1:c.177T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*317T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.368T>C
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser129Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

17-38792338-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792338
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792338
    reference: chr 17
allele count: 2
allele frequency: 1.663395322532353e-5
allele num: 120236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*316C>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.386C>A
  hgvsp: ENSP00000463282.1:p.Ser129Tyr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.472C>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.332C>A
  hgvsp: ENSP00000445370.1:p.Ser111Tyr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.454C>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.338C>A
  hgvsp: ENSP00000463216.1:p.Ser113Tyr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.176C>A
  hgvsp: ENSP00000441857.1:p.Ser59Tyr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.176C>A
  hgvsp: ENSP00000462857.1:p.Ser59Tyr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.386C>A
  hgvsp: ENSP00000323967.6:p.Ser129Tyr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.176C>A
  hgvsp: ENSP00000464511.1:p.Ser59Tyr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.281C>A
  hgvsp: ENSP00000367039.4:p.Ser94Tyr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.281C>A
  hgvsp: ENSP00000462475.1:p.Ser94Tyr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.176C>A
  hgvsp: ENSP00000411607.2:p.Ser59Tyr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.332C>A
  hgvsp: ENSP00000464061.1:p.Ser111Tyr
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*183C>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.389C>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.367C>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*734C>A
  variant of: http://identifiers.org/hgnc/28695
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser129Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

17-38792343-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792343
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792343
    reference: chr 17
allele count: 2
allele frequency: 1.66925401038276e-5
allele num: 119814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*311T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.467T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.171T>C
  hgvsp: ENST00000578044.1:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.276T>C
  hgvsp: ENST00000377808.4:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*729T>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.171T>C
  hgvsp: ENST00000400122.3:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.384T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.171T>C
  hgvsp: ENST00000544009.1:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.171T>C
  hgvsp: ENST00000577721.1:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.327T>C
  hgvsp: ENST00000580654.1:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.362T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.381T>C
  hgvsp: ENST00000582955.1:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.327T>C
  hgvsp: ENST00000431889.2:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.333T>C
  hgvsp: ENST00000478349.2:c.333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.381T>C
  hgvsp: ENST00000348513.6:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.276T>C
  hgvsp: ENST00000580419.1:c.276T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*178T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.449T>C
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn127Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

17-38792351-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792351
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792351
    reference: chr 17
allele count: 1
allele frequency: 8.389543273264204e-6
allele num: 119196
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*721G>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.268G>C
  hgvsp: ENSP00000462475.1:p.Glu90Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.268G>C
  hgvsp: ENSP00000367039.4:p.Glu90Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.319G>C
  hgvsp: ENSP00000445370.1:p.Glu107Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.373G>C
  hgvsp: ENSP00000463282.1:p.Glu125Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.354G>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.163G>C
  hgvsp: ENSP00000464511.1:p.Glu55Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.163G>C
  hgvsp: ENSP00000462857.1:p.Glu55Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.376G>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.163G>C
  hgvsp: ENSP00000441857.1:p.Glu55Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.373G>C
  hgvsp: ENSP00000323967.6:p.Glu125Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.325G>C
  hgvsp: ENSP00000463216.1:p.Glu109Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.163G>C
  hgvsp: ENSP00000411607.2:p.Glu55Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*303G>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.319G>C
  hgvsp: ENSP00000464061.1:p.Glu107Gln
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.441G>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.459G>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*170G>C
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu125Gln
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: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

17-38792364-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792364
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792364
    reference: chr 17
allele count: 1
allele frequency: 8.473283736379196e-6
allele num: 118018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.316-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.265-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.160-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.351-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*300-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.438-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.370-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.160-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.160-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.370-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.265-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.456-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.316-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*167-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.160-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.373-10T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*718-10T>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.322-10T>C
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-38792370-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792370
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792370
    reference: chr 17
allele count: 3
allele frequency: 2.556455048998722e-5
allele num: 117350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.316-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*718-16A>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.160-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.438-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.160-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.160-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.265-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*167-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.456-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.265-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.322-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.160-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*300-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.373-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.370-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.370-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.351-16A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.316-16A>C
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-38792376-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792376
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792376
    reference: chr 17
allele count: 1
allele frequency: 8.54963920522554e-6
allele num: 116964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.265-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.265-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.160-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.373-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*300-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.160-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.160-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.316-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.316-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.370-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*167-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.456-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.438-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*718-22C>G
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.370-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.351-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.322-22C>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.160-22C>G
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

17-38792390-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792390
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792390
    reference: chr 17
allele count: 58
allele frequency: 5.015912550159126e-4
allele num: 115632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.316-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.265-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*718-36T>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.160-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.160-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.322-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.316-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*300-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.160-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.265-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.370-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.456-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.160-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.438-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.351-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.373-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*167-36T>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.370-36T>C
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8014
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

17-38792390-A-AATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792390
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792393
    reference: chr 17
allele count: 2
allele frequency: 1.72962501729625e-5
allele num: 115632
alternate allele: AATT
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*718-37_*718-36insAAT
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.456-37_456-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.160-37_160-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.370-37_370-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*167-37_*167-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*300-37_*300-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.351-37_351-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.373-37_373-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.265-37_265-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.160-37_160-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.160-37_160-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.438-37_438-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.370-37_370-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.316-37_316-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.160-37_160-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.316-37_316-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.322-37_322-36insAAT
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.265-37_265-36insAAT
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

17-38792396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792396
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792396
    reference: chr 17
allele count: 1
allele frequency: 8.728593125360055e-6
allele num: 114566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.160-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.265-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.160-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.456-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*167-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.322-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.160-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.316-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.370-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*718-42G>A
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.316-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.373-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.265-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.370-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.438-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.351-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.160-42G>A
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*300-42G>A
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-38792596-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792596
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792596
    reference: chr 17
allele count: 3
allele frequency: 2.479789713832267e-5
allele num: 120978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.437+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.369+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.159+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.159+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.350+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*166+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.264+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.315+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.321+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*717+51A>G
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.159+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.264+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.455+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.315+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.159+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*299+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.369+51A>G
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.372+51A>G
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9055
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-38792600-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38792600
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 38792600
    reference: chr 17
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000411607
  ensembl transcript: ENST00000400122
  gene symbol: SMARCE1
  hgvsc: ENST00000400122.3:c.159+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264058
  ensembl protein: ENSP00000463483
  ensembl transcript: ENST00000476049
  gene symbol: KRT222
  hgvsc: ENST00000476049.1:c.*717+47A>C
  variant of: http://identifiers.org/hgnc/28695
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462381
  ensembl transcript: ENST00000481231
  gene symbol: SMARCE1
  hgvsc: ENST00000481231.1:c.*299+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464511
  ensembl transcript: ENST00000578044
  gene symbol: SMARCE1
  hgvsc: ENST00000578044.1:c.159+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000469334
  gene symbol: SMARCE1
  hgvsc: ENST00000469334.1:n.455+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463216
  ensembl transcript: ENST00000478349
  gene symbol: SMARCE1
  hgvsc: ENST00000478349.2:c.321+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000583294
  gene symbol: SMARCE1
  hgvsc: ENST00000583294.1:n.437+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464061
  ensembl transcript: ENST00000580654
  gene symbol: SMARCE1
  hgvsc: ENST00000580654.1:c.315+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000441857
  ensembl transcript: ENST00000544009
  gene symbol: SMARCE1
  hgvsc: ENST00000544009.1:c.159+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462475
  ensembl transcript: ENST00000580419
  gene symbol: SMARCE1
  hgvsc: ENST00000580419.1:c.264+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000367039
  ensembl transcript: ENST00000377808
  gene symbol: SMARCE1
  hgvsc: ENST00000377808.4:c.264+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000464501
  ensembl transcript: ENST00000578112
  gene symbol: SMARCE1
  hgvsc: ENST00000578112.1:c.*166+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000463282
  ensembl transcript: ENST00000582955
  gene symbol: SMARCE1
  hgvsc: ENST00000582955.1:c.369+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000462857
  ensembl transcript: ENST00000577721
  gene symbol: SMARCE1
  hgvsc: ENST00000577721.1:c.159+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000323967
  ensembl transcript: ENST00000348513
  gene symbol: SMARCE1
  hgvsc: ENST00000348513.6:c.369+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl protein: ENSP00000445370
  ensembl transcript: ENST00000431889
  gene symbol: SMARCE1
  hgvsc: ENST00000431889.2:c.315+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000578995
  gene symbol: SMARCE1
  hgvsc: ENST00000578995.1:n.372+47A>C
  variant of: http://identifiers.org/hgnc/11109
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073584
  ensembl transcript: ENST00000493660
  gene symbol: SMARCE1
  hgvsc: ENST00000493660.1:n.350+47A>C
  variant of: http://identifiers.org/hgnc/11109
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 537
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 999
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8505
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6144
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2631
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31894
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65638
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13144
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.871e1

VQSLOD
type: SiteQuality
SIO_000300: -4.245e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.595e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.898646e6

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-1

GenotypeDepth
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 408
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 999
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 674
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1892
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33100
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6150
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 291
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3380
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.344283096010151e-4
allele num: 14186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65980
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

QD
type: SiteQuality
SIO_000300: 1.597e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.61e-1

DP
type: SiteQuality
SIO_000300: 1.914131e6

FS
type: SiteQuality
SIO_000300: 3.634e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 238
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13077
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1000
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 408
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.428e1

MQRankSum
type: SiteQuality
SIO_000300: -1.262e0

VQSLOD
type: SiteQuality
SIO_000300: -4.184e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 1.933399e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 4.141e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.224e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.586e0

GenotypeDepth
all individuals: 4023
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 673
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25312
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 536
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2183
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6137
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2668
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8686
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34700
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: -2.912e0

DP
type: SiteQuality
SIO_000300: 1.938848e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.409e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.64e0

QD
type: SiteQuality
SIO_000300: 3.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1892
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 357
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8694
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34767
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6136
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 2665
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.468208092485549e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.043e1

FS
type: SiteQuality
SIO_000300: 1.4362e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.135e0

DP
type: SiteQuality
SIO_000300: 1.94191e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.186e0

GenotypeDepth
all individuals: 480
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 240
bin: 7.25e1
variant carriers: 15

GenotypeDepth
all individuals: 190
bin: 8.75e1
variant carriers: 23

GenotypeDepth
all individuals: 1502
bin: 9.75e1
variant carriers: 245

GenotypeDepth
all individuals: 676
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 273
bin: 6.75e1
variant carriers: 7

GenotypeQuality
all individuals: 85
bin: 1.75e1
variant carriers: 14

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2154
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 112
bin: 3.75e1
variant carriers: 7

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 7

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 325
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 863
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 674
bin: 2.5e0
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 227

GenotypeQuality
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variant carriers: 6

East Asian
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allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.868576767362192e-3
allele num: 6422
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 6.711409395973154e-3
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 99
allele frequency: 9.939759036144578e-3
allele num: 9960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 209
allele frequency: 3.1905474307697e-3
allele num: 65506
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

QD
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SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.612e0

FS
type: SiteQuality
SIO_000300: 2.62801e2

InbreedingCoeff
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SIO_000300: -7.4e-3

ClippingRankSum
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SIO_000300: 4.08e0

MQ
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SIO_000300: 5.928e1

VQSLOD
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SIO_000300: -3.23e2

DP
type: SiteQuality
SIO_000300: 1.987458e6

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2254
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GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.49e0

QD
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SIO_000300: 1.101e1

ClippingRankSum
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SIO_000300: -1.019e0

DP
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SIO_000300: 1.898239e6

FS
type: SiteQuality
SIO_000300: 1.891e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213297743266198e-4
allele num: 16484
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 1.5062e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.900284e6

VQSLOD
type: SiteQuality
SIO_000300: -1.885e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

GenotypeDepth
all individuals: 269
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variant carriers: 0

GenotypeDepth
all individuals: 688
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 2722
bin: 7.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

FS
type: SiteQuality
SIO_000300: 1.804e0

QD
type: SiteQuality
SIO_000300: 1.275e1

DP
type: SiteQuality
SIO_000300: 1.901558e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 10

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
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allele frequency: 1.386962552011096e-3
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
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African
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South Asian
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VQSLOD
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MQ
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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SIO_000300: 8.8e-1

BaseQRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66712
num of homozygotes: 0

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

South Asian
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East Asian
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allele num: 8652
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

African
type: Population
allele count: 0
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Other
type: Population
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ClippingRankSum
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SIO_000300: 2.8e-1

FS
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.001e0

MQ
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SIO_000300: 5.958e1

BaseQRankSum
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SIO_000300: 3.14e0

VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
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variant carriers: 2

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

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

Other
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allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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East Asian
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DP
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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SIO_000300: 8.55e-1

MQ
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SIO_000300: 5.908e1

ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 8
allele frequency: 1.20066036319976e-4
allele num: 66630
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.934235976789168e-4
allele num: 10340
num of homozygotes: 0

South Asian
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num of homozygotes: 0

East Asian
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allele count: 0
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ReadPosRankSum
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SIO_000300: 2.77e-1

MQRankSum
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FS
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MQ
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VQSLOD
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ClippingRankSum
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QD
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InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.056201550387597e-5
allele num: 66048
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East Asian
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Other
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African
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Latino
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European (Finnish)
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VQSLOD
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QD
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SIO_000300: 1.22e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

FS
type: SiteQuality
SIO_000300: 7.447e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.809e0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 1.843825e6

GenotypeQuality
all individuals: 470
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 397
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GenotypeQuality
all individuals: 1165
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523414886810274e-5
allele num: 65642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.903e0

DP
type: SiteQuality
SIO_000300: 1.752953e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 1.945e0

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 5.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14746
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524157902758726e-5
allele num: 65610
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

DP
type: SiteQuality
SIO_000300: 1.721602e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4960
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 22246
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.529051987767584e-4
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14540
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.691179e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.295e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 187
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1997
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.643623689118538e-5
allele num: 65414
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.267e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 3.084e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.263e1

DP
type: SiteQuality
SIO_000300: 1.689573e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53261402648357e-5
allele num: 65248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.256e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.608e0

FS
type: SiteQuality
SIO_000300: 3.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.021e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

DP
type: SiteQuality
SIO_000300: 1.627582e6

QD
type: SiteQuality
SIO_000300: 9.48e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536523155403952e-5
allele num: 65082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.287e0

DP
type: SiteQuality
SIO_000300: 1.604672e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.0e-4

ClippingRankSum
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.481e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.005227181342983e-4
allele num: 9948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.38240353895306e-4
allele num: 65104
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.74246384387524e-4
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11900
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.622e0

DP
type: SiteQuality
SIO_000300: 2.23913e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
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FS
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VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 5.87e0

MQ
type: SiteQuality
SIO_000300: 5.727e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
all individuals: 3201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 8.75e1
variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.743375174337517e-4
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.382106330046992e-4
allele num: 65118
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.005227181342983e-4
allele num: 9948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11898
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.37e0

FS
type: SiteQuality
SIO_000300: 4.927e0

MQRankSum
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SIO_000300: -9.85e-1

ReadPosRankSum
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SIO_000300: -2.819e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.89e-1

MQ
type: SiteQuality
SIO_000300: 5.826e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

DP
type: SiteQuality
SIO_000300: 2.240447e6

GenotypeDepth
all individuals: 3647
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16473
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535437906891045e-5
allele num: 65128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.83e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
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SIO_000300: -8.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
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SIO_000300: -3.137e0

QD
type: SiteQuality
SIO_000300: 1.291e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 2.241506e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16476
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3961
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

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

African
type: Population
allele count: 9
allele frequency: 9.036144578313253e-4
allele num: 9960
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65176
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

QD
type: SiteQuality
SIO_000300: 1.517e1

ClippingRankSum
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SIO_000300: -2.29e-1

FS
type: SiteQuality
SIO_000300: 8.93e-1

DP
type: SiteQuality
SIO_000300: 2.245732e6

BaseQRankSum
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SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

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

GenotypeQuality
all individuals: 16110
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variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 1974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3960
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 4620
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variant carriers: 0

GenotypeQuality
all individuals: 3199
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12472
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
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: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531393568147014e-5
allele num: 65300
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.252078e6

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.584e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

MQ
type: SiteQuality
SIO_000300: 6.078e1

GenotypeDepth
all individuals: 368
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variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
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GenotypeQuality
all individuals: 109
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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
all individuals: 2203
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variant carriers: 0

GenotypeQuality
all individuals: 54
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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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1973
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variant carriers: 0

GenotypeQuality
all individuals: 3963
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3199
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.523322299127295e-5
allele num: 13292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
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: 6612
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

InbreedingCoeff
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BaseQRankSum
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SIO_000300: 1.41e0

ClippingRankSum
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SIO_000300: -4.23e-1

DP
type: SiteQuality
SIO_000300: 2.267776e6

VQSLOD
type: SiteQuality
SIO_000300: -1.824e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011503945070168e-5
allele num: 66412
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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FS
type: SiteQuality
SIO_000300: 1.955e0

BaseQRankSum
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SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

VQSLOD
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ClippingRankSum
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FS
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DP
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele frequency: 1.502990951994469e-5
allele num: 66534
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Other
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.003453972067878e-5
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Other
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East Asian
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allele frequency: 0.0e0
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African
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European (Finnish)
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South Asian
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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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DP
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Latino
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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Other
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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MQ
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FS
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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East Asian
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African
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Latino
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South Asian
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QD
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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South Asian
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East Asian
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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MQ
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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African
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Other
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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DP
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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European (Finnish)
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Other
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East Asian
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QD
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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FS
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QD
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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East Asian
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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African
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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Latino
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ReadPosRankSum
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DP
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

African
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allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

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

Latino
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ReadPosRankSum
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FS
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DP
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MQ
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QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: -3.0e-4

MQRankSum
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -3.617e0

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

South Asian
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allele frequency: 6.094588005850804e-5
allele num: 16408
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.92975685063682e-4
allele num: 10364
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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SIO_000300: 0.0e0

QD
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ClippingRankSum
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MQ
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SIO_000300: 5.953e1

VQSLOD
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SIO_000300: 1.96e0

ReadPosRankSum
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SIO_000300: -1.4e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 5

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66560
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 6
allele frequency: 6.936416184971098e-4
allele num: 8650
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MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

ClippingRankSum
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SIO_000300: -8.74e-1

BaseQRankSum
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SIO_000300: -1.195e0

InbreedingCoeff
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SIO_000300: -3.0e-4

DP
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SIO_000300: 2.315359e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

ReadPosRankSum
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SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 7.58e-1

QD
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SIO_000300: 1.419e1

GenotypeDepth
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variant carriers: 0

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

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

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

South Asian
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allele num: 15990
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.017410458344649e-5
allele num: 66282
num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 1.944768572539868e-4
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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Latino
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Other
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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QD
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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East Asian
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Other
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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African
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East Asian
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QD
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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South Asian
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Latino
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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DP
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MQRankSum
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
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variant carriers: 0

GenotypeQuality
all individuals: 4495
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.088516894187411e-5
allele num: 64756
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 2.173687e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.532e1

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

GenotypeDepth
all individuals: 242
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4014
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3633
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9767
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 368
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2595
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2268
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 7.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7913
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 664
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1504
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variant carriers: 0

GenotypeDepth
all individuals: 10253
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 963
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variant carriers: 0

GenotypeQuality
all individuals: 9804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3705
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5277
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3880
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16387
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1786
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552361141295911e-5
allele num: 64418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

QD
type: SiteQuality
SIO_000300: 2.15e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e0

FS
type: SiteQuality
SIO_000300: 2.218e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.948e0

DP
type: SiteQuality
SIO_000300: 2.148954e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2659
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1650
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7317
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 695
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4012
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11108
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variant carriers: 0

GenotypeDepth
all individuals: 8340
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variant carriers: 0

GenotypeDepth
all individuals: 358
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variant carriers: 0

GenotypeDepth
all individuals: 475
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variant carriers: 0

GenotypeDepth
all individuals: 852
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1053
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2264
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1629
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6242
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2602
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variant carriers: 0

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

GenotypeQuality
all individuals: 2146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21828
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 4480
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4172
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003273568189326e-5
allele num: 66594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

QD
type: SiteQuality
SIO_000300: 1.407e1

DP
type: SiteQuality
SIO_000300: 2.594995e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeDepth
all individuals: 847
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1053
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 695
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4014
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variant carriers: 0

GenotypeDepth
all individuals: 2525
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variant carriers: 0

GenotypeDepth
all individuals: 7315
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11107
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2983
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 475
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variant carriers: 0

GenotypeDepth
all individuals: 362
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variant carriers: 0

GenotypeDepth
all individuals: 5751
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variant carriers: 0

GenotypeDepth
all individuals: 444
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variant carriers: 0

GenotypeDepth
all individuals: 358
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variant carriers: 0

GenotypeQuality
all individuals: 416
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variant carriers: 0

GenotypeQuality
all individuals: 12908
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variant carriers: 0

GenotypeQuality
all individuals: 6237
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variant carriers: 0

GenotypeQuality
all individuals: 2599
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variant carriers: 0

GenotypeQuality
all individuals: 3755
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4474
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4166
bin: 8.25e1
variant carriers: 0