19-18545683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545683
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545683
    reference: chr 19
allele count: 2
allele frequency: 1.726996407847472e-5
allele num: 115808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1067G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.*40G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2097G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.*40G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1281G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1281G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.*40G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.638G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6024
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23098
  bin: 9.75e1
  variant carriers: 2
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: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-18545686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545686
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545686
    reference: chr 19
allele count: 1
allele frequency: 8.633043838596612e-6
allele num: 115834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.*37G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2094G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.*37G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.*37G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.*37G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1278G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.*37G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1278G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1064G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.635G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.*37G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
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: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-18545690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545690
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545690
    reference: chr 19
allele count: 55
allele frequency: 4.718033180640623e-4
allele num: 116574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1274C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1274C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.*33C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.*33C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.*33C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.*33C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.631C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1060C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2090C>T
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9856
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

19-18545700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545700
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545700
    reference: chr 19
allele count: 290
allele frequency: 2.470945093895914e-3
allele num: 117364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.*23G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1264G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2080G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.*23G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1264G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.*23G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1050G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.*23G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.621G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10950
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 8.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13330
  bin: 6.25e1
  variant carriers: 0
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: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

19-18545701-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545701
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545701
    reference: chr 19
allele count: 6
allele frequency: 5.098139179199592e-5
allele num: 117690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2079C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.*22C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.*22C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1049C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1263C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1263C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.620C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.*22C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.*22C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.*22C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.*22C>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

19-18545704-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545704
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545704
    reference: chr 19
allele count: 1
allele frequency: 8.479175145841813e-6
allele num: 117936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.617T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.*19T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.*19T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.*19T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.*19T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2076T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1260T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1260T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.*19T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.*19T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1046T>C
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

19-18545707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545707
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545707
    reference: chr 19
allele count: 1
allele frequency: 8.466110161025414e-6
allele num: 118118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1043G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.*16G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1257G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2073G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1257G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.*16G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.*16G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.*16G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.614G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-18545707-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545707
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545705
    reference: chr 19
allele count: 20
allele frequency: 1.693222032205083e-4
allele num: 118118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.*14_*15delCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1255_*1256delCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2071_2072delCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1255_*1256delCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1041_*1042delCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.*14_*15delCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.*14_*15delCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.612_613delCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.*14_*15delCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.*14_*15delCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.*14_*15delCA
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: CTG
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

19-18545707-CTGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545707
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545703
    reference: chr 19
allele count: 4
allele frequency: 3.386444064410166e-5
allele num: 118118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2069_2072delCACA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.*12_*15delCACA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1253_*1256delCACA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.*12_*15delCACA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.*12_*15delCACA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1039_*1042delCACA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.610_613delCACA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.*12_*15delCACA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.*12_*15delCACA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.*12_*15delCACA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1253_*1256delCACA
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: CTGTG
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-18545716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545716
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545716
    reference: chr 19
allele count: 1
allele frequency: 8.438248894589395e-6
allele num: 118508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.*7G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1248G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1248G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.605G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.*7G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1034G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.*7G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2064G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.*7G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23093
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

19-18545717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545717
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545717
    reference: chr 19
allele count: 1
allele frequency: 8.422187410514259e-6
allele num: 118734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1247C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.*6C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1247C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2063C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.*6C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.*6C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1033C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.604C>T
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-18545730-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545730
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545730
    reference: chr 19
allele count: 2
allele frequency: 1.674284661878213e-5
allele num: 119454
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1670C>A
  hgvsp: ENSP00000337746.7:p.Thr557Asn
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1234C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1064C>A
  hgvsp: ENSP00000315147.6:p.Thr355Asn
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1508C>A
  hgvsp: ENSP00000415458.3:p.Thr503Asn
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.591C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.694C>A
  hgvsp: ENSP00000464528.1:p.Thr232Asn
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1286C>A
  hgvsp: ENSP00000475677.1:p.Thr429Asn
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1234C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2050C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1020C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1220C>A
  hgvsp: ENSP00000444679.1:p.Thr407Asn
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr557Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

19-18545731-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545731
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545731
    reference: chr 19
allele count: 1
allele frequency: 8.370722560771445e-6
allele num: 119464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.693A>G
  hgvsp: ENSP00000464528.1:p.Thr232Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1669A>G
  hgvsp: ENSP00000337746.7:p.Thr557Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.590A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1219A>G
  hgvsp: ENSP00000444679.1:p.Thr407Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1285A>G
  hgvsp: ENSP00000475677.1:p.Thr429Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1063A>G
  hgvsp: ENSP00000315147.6:p.Thr355Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1233A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1233A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1507A>G
  hgvsp: ENSP00000415458.3:p.Thr503Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1019A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2049A>G
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr557Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-18545733-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545733
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545733
    reference: chr 19
allele count: 12
allele frequency: 1.003663371305264e-4
allele num: 119562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2047C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1231C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1667C>T
  hgvsp: ENSP00000337746.7:p.Pro556Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1217C>T
  hgvsp: ENSP00000444679.1:p.Pro406Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1283C>T
  hgvsp: ENSP00000475677.1:p.Pro428Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1505C>T
  hgvsp: ENSP00000415458.3:p.Pro502Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1061C>T
  hgvsp: ENSP00000315147.6:p.Pro354Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1017C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.691C>T
  hgvsp: ENSP00000464528.1:p.Pro231Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1231C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.588C>T
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro556Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-18545739-G-GGGGGCTCCTCTTGCAGATGCCCATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545764
    reference: chr 19
allele count: 2
allele frequency: 1.669839361453428e-5
allele num: 119772
alternate allele: GGGGGCTCCTCTTGCAGATGCCCATT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsp: ENSP00000337746.7:p.Pro554GlnfsTer40
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsp: ENSP00000315147.6:p.Pro352GlnfsTer40
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsp: ENSP00000475677.1:p.Pro426GlnfsTer40
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsp: ENSP00000415458.3:p.Pro500GlnfsTer40
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsp: ENSP00000464528.1:p.Pro229GlnfsTer40
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsp: ENSP00000444679.1:p.Pro404GlnfsTer40
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro554GlnfsTer40
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

19-18545743-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545743
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545743
    reference: chr 19
allele count: 2
allele frequency: 1.668112364048842e-5
allele num: 119896
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1221C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1221C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.578C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1051C>A
  hgvsp: ENSP00000315147.6:p.Pro351Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1273C>A
  hgvsp: ENSP00000475677.1:p.Pro425Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.681C>A
  hgvsp: ENSP00000464528.1:p.Pro228Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1657C>A
  hgvsp: ENSP00000337746.7:p.Pro553Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1207C>A
  hgvsp: ENSP00000444679.1:p.Pro403Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2037C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1007C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1495C>A
  hgvsp: ENSP00000415458.3:p.Pro499Thr
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro553Thr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

19-18545746-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545746
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545746
    reference: chr 19
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.575G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2034G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1204G>A
  hgvsp: ENSP00000444679.1:p.Glu402Lys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1492G>A
  hgvsp: ENSP00000415458.3:p.Glu498Lys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1218G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1654G>A
  hgvsp: ENSP00000337746.7:p.Glu552Lys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1270G>A
  hgvsp: ENSP00000475677.1:p.Glu424Lys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1048G>A
  hgvsp: ENSP00000315147.6:p.Glu350Lys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.678G>A
  hgvsp: ENSP00000464528.1:p.Glu227Lys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1004G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1218G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu552Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

19-18545747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545747
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545747
    reference: chr 19
allele count: 291
allele frequency: 2.425808602867622e-3
allele num: 119960
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1653G>A
  hgvsp: ENST00000338128.8:c.1653G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1269G>A
  hgvsp: ENST00000578963.1:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2033G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1047G>A
  hgvsp: ENST00000317018.6:c.1047G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1491G>A
  hgvsp: ENST00000457269.4:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.677G>A
  hgvsp: ENST00000581672.1:c.677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*1003G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1203G>A
  hgvsp: ENST00000545187.1:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1217G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1217G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.574G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11616
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu551Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

19-18545761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545761
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545761
    reference: chr 19
allele count: 1
allele frequency: 8.324869715788949e-6
allele num: 120122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1203G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1477G>A
  hgvsp: ENSP00000415458.3:p.Gly493Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2019G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*989G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.560G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1639G>A
  hgvsp: ENSP00000337746.7:p.Gly547Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1203G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1255G>A
  hgvsp: ENSP00000475677.1:p.Gly419Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1033G>A
  hgvsp: ENSP00000315147.6:p.Gly345Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1189G>A
  hgvsp: ENSP00000444679.1:p.Gly397Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.663G>A
  hgvsp: ENSP00000464528.1:p.Gly222Arg
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly547Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

19-18545767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545767
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545767
    reference: chr 19
allele count: 1
allele frequency: 8.323206765102459e-6
allele num: 120146
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1633G>A
  hgvsp: ENSP00000337746.7:p.Ala545Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1197G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1197G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1183G>A
  hgvsp: ENSP00000444679.1:p.Ala395Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*983G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.657G>A
  hgvsp: ENSP00000464528.1:p.Ala220Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1471G>A
  hgvsp: ENSP00000415458.3:p.Ala491Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1027G>A
  hgvsp: ENSP00000315147.6:p.Ala343Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1249G>A
  hgvsp: ENSP00000475677.1:p.Ala417Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.554G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2013G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala545Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-18545768-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545768
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545768
    reference: chr 19
allele count: 2
allele frequency: 1.664308895731048e-5
allele num: 120170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1196T>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1632T>A
  hgvsp: ENSP00000337746.7:p.Asp544Glu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1182T>A
  hgvsp: ENSP00000444679.1:p.Asp394Glu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1248T>A
  hgvsp: ENSP00000475677.1:p.Asp416Glu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2012T>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.656T>A
  hgvsp: ENSP00000464528.1:p.Asp219Glu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*982T>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1026T>A
  hgvsp: ENSP00000315147.6:p.Asp342Glu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1196T>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1470T>A
  hgvsp: ENSP00000415458.3:p.Asp490Glu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.553T>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp544Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-18545768-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545768
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545768
    reference: chr 19
allele count: 1
allele frequency: 8.321544478655239e-6
allele num: 120170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1026T>G
  hgvsp: ENSP00000315147.6:p.Asp342Glu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2012T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1470T>G
  hgvsp: ENSP00000415458.3:p.Asp490Glu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1196T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.553T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1248T>G
  hgvsp: ENSP00000475677.1:p.Asp416Glu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.656T>G
  hgvsp: ENSP00000464528.1:p.Asp219Glu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1632T>G
  hgvsp: ENSP00000337746.7:p.Asp544Glu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1196T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*982T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1182T>G
  hgvsp: ENSP00000444679.1:p.Asp394Glu
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp544Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

19-18545769-TCACCGGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545769
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545761
    reference: chr 19
allele count: 2
allele frequency: 1.664225802156837e-5
allele num: 120176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsp: ENSP00000315147.6:p.Cys339Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.544_551delCACCGGTG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsp: ENSP00000415458.3:p.Cys487Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsp: ENSP00000337746.7:p.Cys541Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsp: ENSP00000444679.1:p.Cys391Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.647_654delCACCGGTG
  hgvsp: ENSP00000464528.1:p.Cys216Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsp: ENSP00000475677.1:p.Cys413Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys541Ter
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: TCACCGGTG
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-18545773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545773
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545773
    reference: chr 19
allele count: 2
allele frequency: 1.663838141825563e-5
allele num: 120204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1243G>A
  hgvsp: ENSP00000475677.1:p.Gly415Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*977G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1465G>A
  hgvsp: ENSP00000415458.3:p.Gly489Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1191G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1021G>A
  hgvsp: ENSP00000315147.6:p.Gly341Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1177G>A
  hgvsp: ENSP00000444679.1:p.Gly393Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.548G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1627G>A
  hgvsp: ENSP00000337746.7:p.Gly543Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.651G>A
  hgvsp: ENSP00000464528.1:p.Gly218Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2007G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1191G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly543Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

19-18545774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545774
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545774
    reference: chr 19
allele count: 62
allele frequency: 5.157125983597012e-4
allele num: 120222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1190C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.547C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*976C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1020C>T
  hgvsp: ENST00000317018.6:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1626C>T
  hgvsp: ENST00000338128.8:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.650C>T
  hgvsp: ENST00000581672.1:c.650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1242C>T
  hgvsp: ENST00000578963.1:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1176C>T
  hgvsp: ENST00000545187.1:c.1176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1190C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2006C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1464C>T
  hgvsp: ENST00000457269.4:c.1464C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr542Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

19-18545774-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545774
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545774
    reference: chr 19
allele count: 3
allele frequency: 2.495383540450167e-5
allele num: 120222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1190C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1020C>A
  hgvsp: ENST00000317018.6:c.1020C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1190C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1176C>A
  hgvsp: ENST00000545187.1:c.1176C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1464C>A
  hgvsp: ENST00000457269.4:c.1464C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.650C>A
  hgvsp: ENST00000581672.1:c.650C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1242C>A
  hgvsp: ENST00000578963.1:c.1242C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1626C>A
  hgvsp: ENST00000338128.8:c.1626C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.547C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2006C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*976C>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr542Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-18545775-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545775
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545775
    reference: chr 19
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*975C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.649C>T
  hgvsp: ENSP00000464528.1:p.Thr217Ile
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1189C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2005C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1189C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1463C>T
  hgvsp: ENSP00000415458.3:p.Thr488Ile
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1175C>T
  hgvsp: ENSP00000444679.1:p.Thr392Ile
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1625C>T
  hgvsp: ENSP00000337746.7:p.Thr542Ile
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1241C>T
  hgvsp: ENSP00000475677.1:p.Thr414Ile
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.546C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1019C>T
  hgvsp: ENSP00000315147.6:p.Thr340Ile
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr542Ile
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

19-18545777-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545777
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545777
    reference: chr 19
allele count: 3
allele frequency: 2.494512073438436e-5
allele num: 120264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*973C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1017C>A
  hgvsp: ENSP00000315147.6:p.Cys339Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1623C>A
  hgvsp: ENSP00000337746.7:p.Cys541Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2003C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1461C>A
  hgvsp: ENSP00000415458.3:p.Cys487Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1239C>A
  hgvsp: ENSP00000475677.1:p.Cys413Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1187C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1187C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.647C>A
  hgvsp: ENSP00000464528.1:p.Cys216Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1173C>A
  hgvsp: ENSP00000444679.1:p.Cys391Ter
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.544C>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys541Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-18545778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545778
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545778
    reference: chr 19
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1460G>A
  hgvsp: ENSP00000415458.3:p.Cys487Tyr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1238G>A
  hgvsp: ENSP00000475677.1:p.Cys413Tyr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1016G>A
  hgvsp: ENSP00000315147.6:p.Cys339Tyr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1186G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1622G>A
  hgvsp: ENSP00000337746.7:p.Cys541Tyr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.2002G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1186G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1172G>A
  hgvsp: ENSP00000444679.1:p.Cys391Tyr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.543G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*972G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.646G>A
  hgvsp: ENSP00000464528.1:p.Cys216Tyr
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys541Tyr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-18545781-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545781
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545781
    reference: chr 19
allele count: 2
allele frequency: 1.66267624368183e-5
allele num: 120288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1999G>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1183G>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1619G>T
  hgvsp: ENSP00000337746.7:p.Gly540Val
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.643G>T
  hgvsp: ENSP00000464528.1:p.Gly215Val
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*969G>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1169G>T
  hgvsp: ENSP00000444679.1:p.Gly390Val
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1235G>T
  hgvsp: ENSP00000475677.1:p.Gly412Val
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.540G>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1457G>T
  hgvsp: ENSP00000415458.3:p.Gly486Val
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1013G>T
  hgvsp: ENSP00000315147.6:p.Gly338Val
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1183G>T
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly540Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

19-18545784-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545784
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545784
    reference: chr 19
allele count: 1
allele frequency: 8.311584686736373e-6
allele num: 120314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1180A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.537A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1010A>G
  hgvsp: ENSP00000315147.6:p.Asn337Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1180A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1996A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.640A>G
  hgvsp: ENSP00000464528.1:p.Asn214Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1232A>G
  hgvsp: ENSP00000475677.1:p.Asn411Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1454A>G
  hgvsp: ENSP00000415458.3:p.Asn485Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1616A>G
  hgvsp: ENSP00000337746.7:p.Asn539Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*966A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1166A>G
  hgvsp: ENSP00000444679.1:p.Asn389Ser
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10278
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn539Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-18545784-TTGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545784
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545781
    reference: chr 19
allele count: 1
allele frequency: 8.311584686736373e-6
allele num: 120314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1177_*1179delCCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1007_1009delCCA
  hgvsp: ENSP00000315147.6:p.Thr336del
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1993_1995delCCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1177_*1179delCCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1613_1615delCCA
  hgvsp: ENSP00000337746.7:p.Thr538del
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.534_536delCCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1163_1165delCCA
  hgvsp: ENSP00000444679.1:p.Thr388del
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.637_639delCCA
  hgvsp: ENSP00000464528.1:p.Thr213del
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1451_1453delCCA
  hgvsp: ENSP00000415458.3:p.Thr484del
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*963_*965delCCA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1229_1231delCCA
  hgvsp: ENSP00000475677.1:p.Thr410del
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr538del
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: TTGG
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS

19-18545786-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545786
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545786
    reference: chr 19
allele count: 25586
allele frequency: 2.124165642745658e-1
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.535C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*964C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1230C>A
  hgvsp: ENST00000578963.1:c.1230C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1994C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1008C>A
  hgvsp: ENST00000317018.6:c.1008C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1178C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1452C>A
  hgvsp: ENST00000457269.4:c.1452C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1614C>A
  hgvsp: ENST00000338128.8:c.1614C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.638C>A
  hgvsp: ENST00000581672.1:c.638C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1164C>A
  hgvsp: ENST00000545187.1:c.1164C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1178C>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 3.25e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 2.75e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 15327
  bin: 9.75e1
  variant carriers: 15260
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 4.75e1
  variant carriers: 244
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 4.25e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.75e1
  variant carriers: 729
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 3.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.25e1
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 1218
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.25e1
  variant carriers: 383
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.75e1
  variant carriers: 311
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 8.25e1
  variant carriers: 899
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 8.75e1
  variant carriers: 1129
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 6.75e1
  variant carriers: 455
genotype quality: GenotypeQuality
hgvs: p.Thr538Thr
num of homozygotes: 2851
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-18545792-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545792
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545792
    reference: chr 19
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1002T>C
  hgvsp: ENST00000317018.6:c.1002T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1172T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.529T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1158T>C
  hgvsp: ENST00000545187.1:c.1158T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1988T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1224T>C
  hgvsp: ENST00000578963.1:c.1224T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1172T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1446T>C
  hgvsp: ENST00000457269.4:c.1446T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.632T>C
  hgvsp: ENST00000581672.1:c.632T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1608T>C
  hgvsp: ENST00000338128.8:c.1608T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*958T>C
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala536Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-18545794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545794
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545794
    reference: chr 19
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.630G>A
  hgvsp: ENSP00000464528.1:p.Ala211Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.1000G>A
  hgvsp: ENSP00000315147.6:p.Ala334Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1170G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1222G>A
  hgvsp: ENSP00000475677.1:p.Ala408Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1986G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1606G>A
  hgvsp: ENSP00000337746.7:p.Ala536Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*956G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.527G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1170G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1156G>A
  hgvsp: ENSP00000444679.1:p.Ala386Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1444G>A
  hgvsp: ENSP00000415458.3:p.Ala482Thr
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala536Thr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-18545795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545795
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545795
    reference: chr 19
allele count: 2
allele frequency: 1.661405549094534e-5
allele num: 120380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1443C>T
  hgvsp: ENST00000457269.4:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.999C>T
  hgvsp: ENST00000317018.6:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1221C>T
  hgvsp: ENST00000578963.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1155C>T
  hgvsp: ENST00000545187.1:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.526C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.629C>T
  hgvsp: ENST00000581672.1:c.629C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1605C>T
  hgvsp: ENST00000338128.8:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*955C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1985C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1169C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1169C>T
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro535Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

19-18545800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545800
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545800
    reference: chr 19
allele count: 5
allele frequency: 4.152961892421675e-5
allele num: 120396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.624G>A
  hgvsp: ENSP00000464528.1:p.Val209Ile
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1600G>A
  hgvsp: ENSP00000337746.7:p.Val534Ile
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*950G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.994G>A
  hgvsp: ENSP00000315147.6:p.Val332Ile
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1216G>A
  hgvsp: ENSP00000475677.1:p.Val406Ile
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.521G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1164G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1150G>A
  hgvsp: ENSP00000444679.1:p.Val384Ile
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1438G>A
  hgvsp: ENSP00000415458.3:p.Val480Ile
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1980G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1164G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val534Ile
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-18545801-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545801
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545801
    reference: chr 19
allele count: 2
allele frequency: 1.661267547138467e-5
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1215G>A
  hgvsp: ENST00000578963.1:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1437G>A
  hgvsp: ENST00000457269.4:c.1437G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.520G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.993G>A
  hgvsp: ENST00000317018.6:c.993G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1163G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1149G>A
  hgvsp: ENST00000545187.1:c.1149G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1979G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1163G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*949G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1599G>A
  hgvsp: ENST00000338128.8:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.623G>A
  hgvsp: ENST00000581672.1:c.623G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro533Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

19-18545802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545802
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545802
    reference: chr 19
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1162C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1148C>T
  hgvsp: ENSP00000444679.1:p.Pro383Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1598C>T
  hgvsp: ENSP00000337746.7:p.Pro533Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1214C>T
  hgvsp: ENSP00000475677.1:p.Pro405Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.519C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.622C>T
  hgvsp: ENSP00000464528.1:p.Pro208Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.992C>T
  hgvsp: ENSP00000315147.6:p.Pro331Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1978C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*948C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1162C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1436C>T
  hgvsp: ENSP00000415458.3:p.Pro479Leu
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro533Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

19-18545802-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545802
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545802
    reference: chr 19
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1214C>G
  hgvsp: ENSP00000475677.1:p.Pro405Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.992C>G
  hgvsp: ENSP00000315147.6:p.Pro331Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.519C>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.622C>G
  hgvsp: ENSP00000464528.1:p.Pro208Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1162C>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1598C>G
  hgvsp: ENSP00000337746.7:p.Pro533Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*948C>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1436C>G
  hgvsp: ENSP00000415458.3:p.Pro479Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1148C>G
  hgvsp: ENSP00000444679.1:p.Pro383Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1162C>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1978C>G
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro533Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-18545805-CCTTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545805
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545801
    reference: chr 19
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1971_1974delAAAG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1141_1144delAAAG
  hgvsp: ENSP00000444679.1:p.Lys381AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1429_1432delAAAG
  hgvsp: ENSP00000415458.3:p.Lys477AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.615_618delAAAG
  hgvsp: ENSP00000464528.1:p.Lys206AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1591_1594delAAAG
  hgvsp: ENSP00000337746.7:p.Lys531AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*941_*944delAAAG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1155_*1158delAAAG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1207_1210delAAAG
  hgvsp: ENSP00000475677.1:p.Lys403AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.985_988delAAAG
  hgvsp: ENSP00000315147.6:p.Lys329AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.512_515delAAAG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1155_*1158delAAAG
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys531AspfsTer48
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: CCTTT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

19-18545806-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545806
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545805
    reference: chr 19
allele count: 1
allele frequency: 8.304820117596252e-6
allele num: 120412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1143delA
  hgvsp: ENSP00000444679.1:p.Gly382AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.617delA
  hgvsp: ENSP00000464528.1:p.Gly207AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1431delA
  hgvsp: ENSP00000415458.3:p.Gly478AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.514delA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1157delA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1157delA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.987delA
  hgvsp: ENSP00000315147.6:p.Gly330AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1593delA
  hgvsp: ENSP00000337746.7:p.Gly532AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*943delA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1209delA
  hgvsp: ENSP00000475677.1:p.Gly404AspfsTer48
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1973delA
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly532AspfsTer48
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: CT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

19-18545810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545810
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545810
    reference: chr 19
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1140G>A
  hgvsp: ENST00000545187.1:c.1140G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1590G>A
  hgvsp: ENST00000338128.8:c.1590G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1154G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.984G>A
  hgvsp: ENST00000317018.6:c.984G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1970G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.511G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1154G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1206G>A
  hgvsp: ENST00000578963.1:c.1206G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.614G>A
  hgvsp: ENST00000581672.1:c.614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*940G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1428G>A
  hgvsp: ENST00000457269.4:c.1428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys530Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

19-18545820-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545820
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545820
    reference: chr 19
allele count: 2
allele frequency: 1.660660610790973e-5
allele num: 120434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1130T>C
  hgvsp: ENSP00000444679.1:p.Met377Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1418T>C
  hgvsp: ENSP00000415458.3:p.Met473Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.604T>C
  hgvsp: ENSP00000464528.1:p.Met202Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.501T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1144T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1196T>C
  hgvsp: ENSP00000475677.1:p.Met399Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*930T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1580T>C
  hgvsp: ENSP00000337746.7:p.Met527Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.974T>C
  hgvsp: ENSP00000315147.6:p.Met325Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1144T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1960T>C
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met527Thr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

19-18545826-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545826
    reference: chr 19
allele count: 3
allele frequency: 2.490990916186459e-5
allele num: 120434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1190A>G
  hgvsp: ENSP00000475677.1:p.Tyr397Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1124A>G
  hgvsp: ENSP00000444679.1:p.Tyr375Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1138A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1138A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.598A>G
  hgvsp: ENSP00000464528.1:p.Tyr200Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.968A>G
  hgvsp: ENSP00000315147.6:p.Tyr323Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.495A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*924A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1574A>G
  hgvsp: ENSP00000337746.7:p.Tyr525Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1412A>G
  hgvsp: ENSP00000415458.3:p.Tyr471Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1954A>G
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr525Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

19-18545826-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545826
    reference: chr 19
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1412A>C
  hgvsp: ENSP00000415458.3:p.Tyr471Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1574A>C
  hgvsp: ENSP00000337746.7:p.Tyr525Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1124A>C
  hgvsp: ENSP00000444679.1:p.Tyr375Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.598A>C
  hgvsp: ENSP00000464528.1:p.Tyr200Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.968A>C
  hgvsp: ENSP00000315147.6:p.Tyr323Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1138A>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1190A>C
  hgvsp: ENSP00000475677.1:p.Tyr397Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*924A>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.495A>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1138A>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1954A>C
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr525Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

19-18545831-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545831
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545831
    reference: chr 19
allele count: 7
allele frequency: 5.81192607230036e-5
allele num: 120442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1133C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1133C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.490C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.593C>A
  hgvsp: ENST00000581672.1:c.593C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1569C>A
  hgvsp: ENST00000338128.8:c.1569C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1949C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1119C>A
  hgvsp: ENST00000545187.1:c.1119C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1407C>A
  hgvsp: ENST00000457269.4:c.1407C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*919C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1185C>A
  hgvsp: ENST00000578963.1:c.1185C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.963C>A
  hgvsp: ENST00000317018.6:c.963C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala523Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

19-18545833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545833
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545833
    reference: chr 19
allele count: 14
allele frequency: 1.162404516771837e-4
allele num: 120440
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1183G>A
  hgvsp: ENSP00000475677.1:p.Ala395Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1131G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1567G>A
  hgvsp: ENSP00000337746.7:p.Ala523Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.488G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*917G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.591G>A
  hgvsp: ENSP00000464528.1:p.Ala198Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1117G>A
  hgvsp: ENSP00000444679.1:p.Ala373Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.961G>A
  hgvsp: ENSP00000315147.6:p.Ala321Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1131G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1405G>A
  hgvsp: ENSP00000415458.3:p.Ala469Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1947G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala523Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-18545839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545839
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545839
    reference: chr 19
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.585G>A
  hgvsp: ENSP00000464528.1:p.Val196Met
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1125G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1399G>A
  hgvsp: ENSP00000415458.3:p.Val467Met
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.955G>A
  hgvsp: ENSP00000315147.6:p.Val319Met
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1177G>A
  hgvsp: ENSP00000475677.1:p.Val393Met
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*911G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1561G>A
  hgvsp: ENSP00000337746.7:p.Val521Met
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.482G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1111G>A
  hgvsp: ENSP00000444679.1:p.Val371Met
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1941G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1125G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val521Met
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-18545842-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545842
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545842
    reference: chr 19
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1558C>A
  hgvsp: ENSP00000337746.7:p.Pro520Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.479C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1174C>A
  hgvsp: ENSP00000475677.1:p.Pro392Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*908C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.952C>A
  hgvsp: ENSP00000315147.6:p.Pro318Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1938C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1396C>A
  hgvsp: ENSP00000415458.3:p.Pro466Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1108C>A
  hgvsp: ENSP00000444679.1:p.Pro370Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.582C>A
  hgvsp: ENSP00000464528.1:p.Pro195Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1122C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1122C>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro520Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

19-18545847-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545847
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545847
    reference: chr 19
allele count: 3
allele frequency: 2.490825459557297e-5
allele num: 120442
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.947T>C
  hgvsp: ENSP00000315147.6:p.Val316Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1933T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.577T>C
  hgvsp: ENSP00000464528.1:p.Val193Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1103T>C
  hgvsp: ENSP00000444679.1:p.Val368Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1553T>C
  hgvsp: ENSP00000337746.7:p.Val518Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1169T>C
  hgvsp: ENSP00000475677.1:p.Val390Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1117T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1391T>C
  hgvsp: ENSP00000415458.3:p.Val464Ala
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.474T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*903T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1117T>C
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val518Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

19-18545859-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545859
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545859
    reference: chr 19
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1105G>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.935G>C
  hgvsp: ENSP00000315147.6:p.Ser312Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1091G>C
  hgvsp: ENSP00000444679.1:p.Ser364Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*891G>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1541G>C
  hgvsp: ENSP00000337746.7:p.Ser514Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.462G>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1157G>C
  hgvsp: ENSP00000475677.1:p.Ser386Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1921G>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1379G>C
  hgvsp: ENSP00000415458.3:p.Ser460Thr
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1105G>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.565G>C
  hgvsp: ENSP00000464528.1:p.Ser189Thr
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser514Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

19-18545866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545866
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545866
    reference: chr 19
allele count: 1
allele frequency: 8.308684236764266e-6
allele num: 120356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1084G>A
  hgvsp: ENSP00000444679.1:p.Gly362Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1150G>A
  hgvsp: ENSP00000475677.1:p.Gly384Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.928G>A
  hgvsp: ENSP00000315147.6:p.Gly310Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1914G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1372G>A
  hgvsp: ENSP00000415458.3:p.Gly458Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1098G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*884G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1534G>A
  hgvsp: ENSP00000337746.7:p.Gly512Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.558G>A
  hgvsp: ENSP00000464528.1:p.Gly187Arg
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1098G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.455G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly512Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-18545867-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545867
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545867
    reference: chr 19
allele count: 3
allele frequency: 2.492729538845035e-5
allele num: 120350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1097A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.927A>G
  hgvsp: ENST00000317018.6:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1083A>G
  hgvsp: ENST00000545187.1:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.557A>G
  hgvsp: ENST00000581672.1:c.557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1533A>G
  hgvsp: ENST00000338128.8:c.1533A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*883A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1149A>G
  hgvsp: ENST00000578963.1:c.1149A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1371A>G
  hgvsp: ENST00000457269.4:c.1371A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1913A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1097A>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.454A>G
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro511Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

19-18545871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545871
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545871
    reference: chr 19
allele count: 2
allele frequency: 1.6619025460347e-5
allele num: 120344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*879G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.553G>A
  hgvsp: ENSP00000464528.1:p.Arg185His
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.923G>A
  hgvsp: ENSP00000315147.6:p.Arg308His
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1079G>A
  hgvsp: ENSP00000444679.1:p.Arg360His
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1145G>A
  hgvsp: ENSP00000475677.1:p.Arg382His
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.450G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1529G>A
  hgvsp: ENSP00000337746.7:p.Arg510His
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1367G>A
  hgvsp: ENSP00000415458.3:p.Arg456His
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1093G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1093G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1909G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg510His
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

19-18545872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545872
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545872
    reference: chr 19
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.922C>T
  hgvsp: ENSP00000315147.6:p.Arg308Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1366C>T
  hgvsp: ENSP00000415458.3:p.Arg456Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*878C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1528C>T
  hgvsp: ENSP00000337746.7:p.Arg510Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1092C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1092C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1078C>T
  hgvsp: ENSP00000444679.1:p.Arg360Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.449C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.552C>T
  hgvsp: ENSP00000464528.1:p.Arg185Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1144C>T
  hgvsp: ENSP00000475677.1:p.Arg382Cys
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1908C>T
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg510Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-18545872-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545872
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545872
    reference: chr 19
allele count: 3
allele frequency: 2.493060980271577e-5
allele num: 120334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1366C>A
  hgvsp: ENSP00000415458.3:p.Arg456Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1092C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1144C>A
  hgvsp: ENSP00000475677.1:p.Arg382Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1092C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*878C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1528C>A
  hgvsp: ENSP00000337746.7:p.Arg510Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.922C>A
  hgvsp: ENSP00000315147.6:p.Arg308Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1078C>A
  hgvsp: ENSP00000444679.1:p.Arg360Ser
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1908C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.449C>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.552C>A
  hgvsp: ENSP00000464528.1:p.Arg185Ser
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13887
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg510Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

19-18545873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545873
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545873
    reference: chr 19
allele count: 2
allele frequency: 1.661930165694438e-5
allele num: 120342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1527G>A
  hgvsp: ENST00000338128.8:c.1527G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1365G>A
  hgvsp: ENST00000457269.4:c.1365G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1077G>A
  hgvsp: ENST00000545187.1:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.448G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1143G>A
  hgvsp: ENST00000578963.1:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1907G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.921G>A
  hgvsp: ENST00000317018.6:c.921G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.551G>A
  hgvsp: ENST00000581672.1:c.551G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1091G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1091G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*877G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu509Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

19-18545877-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545877
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545878
    reference: chr 19
allele count: 5
allele frequency: 4.155170694412127e-5
allele num: 120332
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1086dupA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1072dupA
  hgvsp: ENSP00000444679.1:p.Met358AsnfsTer37
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.443dupA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.916dupA
  hgvsp: ENSP00000315147.6:p.Met306AsnfsTer37
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1086dupA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*872dupA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1902dupA
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1360dupA
  hgvsp: ENSP00000415458.3:p.Met454AsnfsTer37
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1522dupA
  hgvsp: ENSP00000337746.7:p.Met508AsnfsTer37
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1138dupA
  hgvsp: ENSP00000475677.1:p.Met380AsnfsTer37
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.546dupA
  hgvsp: ENSP00000464528.1:p.Met183AsnfsTer37
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met508AsnfsTer37
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

19-18545888-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545888
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545888
    reference: chr 19
allele count: 2
allele frequency: 1.662869780667476e-5
allele num: 120274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.433G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1076G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1350G>A
  hgvsp: ENST00000457269.4:c.1350G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.906G>A
  hgvsp: ENST00000317018.6:c.906G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.536G>A
  hgvsp: ENST00000581672.1:c.536G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1128G>A
  hgvsp: ENST00000578963.1:c.1128G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*862G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1512G>A
  hgvsp: ENST00000338128.8:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1076G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1892G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1062G>A
  hgvsp: ENST00000545187.1:c.1062G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu504Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

19-18545891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545891
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545891
    reference: chr 19
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.903C>T
  hgvsp: ENST00000317018.6:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1889C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1509C>T
  hgvsp: ENST00000338128.8:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*859C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1059C>T
  hgvsp: ENST00000545187.1:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1125C>T
  hgvsp: ENST00000578963.1:c.1125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.430C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1073C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.533C>T
  hgvsp: ENST00000581672.1:c.533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1347C>T
  hgvsp: ENST00000457269.4:c.1347C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1073C>T
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu503Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

19-18545907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545907
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545907
    reference: chr 19
allele count: 1
allele frequency: 8.342927700188551e-6
allele num: 119862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*843C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1331C>T
  hgvsp: ENSP00000415458.3:p.Pro444Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1109C>T
  hgvsp: ENSP00000475677.1:p.Pro370Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.517C>T
  hgvsp: ENSP00000464528.1:p.Pro173Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1057C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1873C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1493C>T
  hgvsp: ENSP00000337746.7:p.Pro498Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.887C>T
  hgvsp: ENSP00000315147.6:p.Pro296Leu
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1057C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.414C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1043C>T
  hgvsp: ENSP00000444679.1:p.Pro348Leu
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro498Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-18545909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545909
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545909
    reference: chr 19
allele count: 14
allele frequency: 1.170333712298535e-4
allele num: 119624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*841G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1329G>A
  hgvsp: ENST00000457269.4:c.1329G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.515G>A
  hgvsp: ENST00000581672.1:c.515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.412G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1491G>A
  hgvsp: ENST00000338128.8:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1055G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.885G>A
  hgvsp: ENST00000317018.6:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1107G>A
  hgvsp: ENST00000578963.1:c.1107G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1871G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1041G>A
  hgvsp: ENST00000545187.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1055G>A
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro497Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-18545927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545927
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545927
    reference: chr 19
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1473G>A
  hgvsp: ENST00000338128.8:c.1473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.867G>A
  hgvsp: ENST00000317018.6:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1037G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1311G>A
  hgvsp: ENST00000457269.4:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.394G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1089G>A
  hgvsp: ENST00000578963.1:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1037G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.497G>A
  hgvsp: ENST00000581672.1:c.497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*823G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1853G>A
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1023G>A
  hgvsp: ENST00000545187.1:c.1023G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.1473G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

19-18545935-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545935
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545935
    reference: chr 19
allele count: 1
allele frequency: 8.391232839928842e-6
allele num: 119172
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1473-8C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*823-8C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.394-8C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1853-8C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.497-8C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1311-8C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1037-8C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1037-8C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1089-8C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1023-8C>T
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.867-8C>T
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1473-8C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

19-18545937-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545937
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545935
    reference: chr 19
allele count: 1
allele frequency: 8.41226845231085e-6
allele num: 118874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1311-12_1311-11delTG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1037-12_*1037-11delTG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.497-12_497-11delTG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.394-12_394-11delTG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1853-12_1853-11delTG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*823-12_*823-11delTG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1473-12_1473-11delTG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1023-12_1023-11delTG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1089-12_1089-11delTG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1037-12_*1037-11delTG
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.867-12_867-11delTG
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: TCA
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-18545939-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545939
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545939
    reference: chr 19
allele count: 2
allele frequency: 1.67993817827504e-5
allele num: 119052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*823-12T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1089-12T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1473-12T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.497-12T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1037-12T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1037-12T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1853-12T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1023-12T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.394-12T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.867-12T>G
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1311-12T>G
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17702
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

19-18545943-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18545943
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18545943
    reference: chr 19
allele count: 1
allele frequency: 8.407741848694278e-6
allele num: 118938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464209
  ensembl transcript: ENST00000582770
  gene symbol: ISYNA1
  hgvsc: ENST00000582770.2:c.*823-16T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000315147
  ensembl transcript: ENST00000317018
  gene symbol: ISYNA1
  hgvsc: ENST00000317018.6:c.867-16T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000444679
  ensembl transcript: ENST00000545187
  gene symbol: ISYNA1
  hgvsc: ENST00000545187.1:c.1023-16T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463271
  ensembl transcript: ENST00000577820
  gene symbol: ISYNA1
  hgvsc: ENST00000577820.1:c.*1037-16T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000475677
  ensembl transcript: ENST00000578963
  gene symbol: ISYNA1
  hgvsc: ENST00000578963.1:c.1089-16T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000415458
  ensembl transcript: ENST00000457269
  gene symbol: ISYNA1
  hgvsc: ENST00000457269.4:c.1311-16T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000337746
  ensembl transcript: ENST00000338128
  gene symbol: ISYNA1
  hgvsc: ENST00000338128.8:c.1473-16T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000582287
  gene symbol: ISYNA1
  hgvsc: ENST00000582287.2:n.394-16T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000463628
  ensembl transcript: ENST00000582811
  gene symbol: ISYNA1
  hgvsc: ENST00000582811.2:c.*1037-16T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl transcript: ENST00000577916
  gene symbol: ISYNA1
  hgvsc: ENST00000577916.2:n.1853-16T>C
  variant of: http://identifiers.org/hgnc/29821
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105655
  ensembl protein: ENSP00000464528
  ensembl transcript: ENST00000581672
  gene symbol: ISYNA1
  hgvsc: ENST00000581672.1:c.497-16T>C
  variant of: http://identifiers.org/hgnc/29821
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16471
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 212
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 663
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5623
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3738
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.166360585143436e-5
allele num: 63164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.302546e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 8.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.588e0

GenotypeQuality
all individuals: 190
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23095
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1665
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2089
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11846
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63214
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

FS
type: SiteQuality
SIO_000300: 1.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.309566e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
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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bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 23167
bin: 9.75e1
variant carriers: 56

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63614
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.611875326484416e-4
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 52
allele frequency: 5.699254712845244e-3
allele num: 9124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

DP
type: SiteQuality
SIO_000300: 2.322066e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.779e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 2115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 23229
bin: 9.75e1
variant carriers: 291

GenotypeQuality
all individuals: 2864
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.737921445950643e-4
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 235
allele frequency: 3.665917883439411e-3
allele num: 64104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.287245444801715e-4
allele num: 9330
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.681818181818182e-3
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 40
allele frequency: 6.155740227762389e-3
allele num: 6498
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.428658166363084e-4
allele num: 16470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.879999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 2.345264e6

GenotypeQuality
all individuals: 13700
bin: 6.25e1
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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variant carriers: 6

GenotypeQuality
all individuals: 6053
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variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.639451655950503e-4
allele num: 16486
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64304
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 2.339182e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.31e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 148
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GenotypeQuality
all individuals: 2141
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9460
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.898e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.291e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.342035e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
all individuals: 2859
bin: 9.25e1
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
all individuals: 185
bin: 2.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.34509e6

QD
type: SiteQuality
SIO_000300: 1.49e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

FS
type: SiteQuality
SIO_000300: 2.132e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

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

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: 20

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 15
allele frequency: 1.745810055865922e-3
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549042691616581e-5
allele num: 64556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

QD
type: SiteQuality
SIO_000300: 1.49e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 2.132e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.34509e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 23108
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549042691616581e-5
allele num: 64556
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.327746741154562e-4
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 2.132e0

QD
type: SiteQuality
SIO_000300: 1.49e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.34509e6

GenotypeQuality
all individuals: 14101
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
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GenotypeQuality
all individuals: 55
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GenotypeQuality
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GenotypeQuality
all individuals: 158
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GenotypeQuality
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GenotypeQuality
all individuals: 2146
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GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 81
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GenotypeQuality
all individuals: 3476
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GenotypeQuality
all individuals: 101
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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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bin: 4.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64804
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 1.73e0

ReadPosRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -3.712e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.349779e6

QD
type: SiteQuality
SIO_000300: 1.376e1

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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variant carriers: 1

South Asian
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allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64926
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
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SIO_000300: -9.0e-4

FS
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SIO_000300: 1.119e0

MQ
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VQSLOD
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BaseQRankSum
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SIO_000300: 1.11e0

ClippingRankSum
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SIO_000300: 6.44e-1

DP
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ReadPosRankSum
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SIO_000300: -1.365e0

QD
type: SiteQuality
SIO_000300: 1.449e1

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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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
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 (Non-Finnish)
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allele count: 2
allele frequency: 3.061286965040103e-5
allele num: 65332
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -5.0e-4

ReadPosRankSum
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SIO_000300: -5.84e-1

QD
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SIO_000300: 1.119e1

MQRankSum
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VQSLOD
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DP
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SIO_000300: 2.359399e6

BaseQRankSum
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SIO_000300: -6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 2.1292e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 74
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65338
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.00060036021613e-4
allele num: 9994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.729e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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QD
type: SiteQuality
SIO_000300: 1.075e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.359456e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3900
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GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.270964614638875e-4
allele num: 16504
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65384
num of homozygotes: 0

African
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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
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.885e0

BaseQRankSum
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SIO_000300: -8.01e-1

MQ
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SIO_000300: 5.969e1

VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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SIO_000300: -3.0e-4

ReadPosRankSum
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SIO_000300: 6.32e-1

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.052689419378472e-5
allele num: 65516
num of homozygotes: 0

Other
type: Population
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FS
type: SiteQuality
SIO_000300: 1.627e1

InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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DP
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MQRankSum
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BaseQRankSum
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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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variant carriers: 2

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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allele num: 16506
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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FS
type: SiteQuality
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65618
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

DP
type: SiteQuality
SIO_000300: 2.36454e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.969e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeDepth
all individuals: 221
bin: 9.25e1
variant carriers: 9

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

GenotypeQuality
all individuals: 2859
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
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GenotypeQuality
all individuals: 3886
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 291

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6217
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 10
allele frequency: 9.83477576711251e-4
allele num: 10168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 261
allele frequency: 3.977324677699552e-3
allele num: 65622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.071645415907711e-4
allele num: 6588
num of homozygotes: 0

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

Latino
type: Population
allele count: 14
allele frequency: 1.211701575212048e-3
allele num: 11554
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

FS
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 2.382064e6

BaseQRankSum
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SIO_000300: -1.044e0

QD
type: SiteQuality
SIO_000300: 1.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeDepth
all individuals: 471
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3919
bin: 7.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.85e0

QD
type: SiteQuality
SIO_000300: 1.158e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

DP
type: SiteQuality
SIO_000300: 2.366667e6

GenotypeDepth
all individuals: 1416
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 14819
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variant carriers: 0

GenotypeQuality
all individuals: 3915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3506
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variant carriers: 0

GenotypeQuality
all individuals: 114
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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: 27
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 2146
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521375323292256e-5
allele num: 65730
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.367077e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e0

QD
type: SiteQuality
SIO_000300: 1.24e1

GenotypeDepth
all individuals: 10215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
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variant carriers: 0

GenotypeQuality
all individuals: 23027
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 56
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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: 2876
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 7.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.042195248091022e-5
allele num: 65742
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 2.367317e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.61e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

GenotypeDepth
all individuals: 317
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 2876
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2146
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 23027
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3917
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 522
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65742
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

DP
type: SiteQuality
SIO_000300: 2.367317e6

QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.77e-1

GenotypeQuality
all individuals: 63
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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: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.99e0

DP
type: SiteQuality
SIO_000300: 2.367107e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

MQ
type: SiteQuality
SIO_000300: 3.874e1

QD
type: SiteQuality
SIO_000300: 1.623e1

GenotypeDepth
all individuals: 1011
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2981
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
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: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.040900106431504e-5
allele num: 65770
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.367764e6

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.698e1

MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

GenotypeDepth
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bin: 8.25e1
variant carriers: 3

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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variant carriers: 62

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 49
allele frequency: 4.240955513242167e-3
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.601094557616297e-5
allele num: 65780
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.84613520717228e-4
allele num: 16508
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
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SIO_000300: 4.57e-1

FS
type: SiteQuality
SIO_000300: 1.729e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.369e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

DP
type: SiteQuality
SIO_000300: 2.372807e6

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeDepth
all individuals: 700
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
all individuals: 2980
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.040437823046519e-5
allele num: 65780
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
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SIO_000300: -1.99e-1

ReadPosRankSum
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SIO_000300: 4.67e-1

FS
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SIO_000300: 1.729e0

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

InbreedingCoeff
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SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 2.372807e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.369e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 88
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2984
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GenotypeQuality
all individuals: 3511
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65792
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.368536e6

VQSLOD
type: SiteQuality
SIO_000300: -3.136e-1

InbreedingCoeff
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SIO_000300: 6.1e-3

BaseQRankSum
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SIO_000300: -3.023e0

ClippingRankSum
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SIO_000300: 2.05e-1

ReadPosRankSum
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SIO_000300: -5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.11e-1

FS
type: SiteQuality
SIO_000300: 8.182e0

QD
type: SiteQuality
SIO_000300: 1.156e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeDepth
all individuals: 1013
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2981
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 23003
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 3931
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2144
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14862
bin: 6.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0389594602808e-5
allele num: 65812
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

QD
type: SiteQuality
SIO_000300: 1.409e1

DP
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MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 4.987e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

VQSLOD
type: SiteQuality
SIO_000300: -2.76e-1

GenotypeDepth
all individuals: 480
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 481
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3513
bin: 8.25e1
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GenotypeQuality
all individuals: 14942
bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5194797301404e-5
allele num: 65812
num of homozygotes: 0

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

QD
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SIO_000300: 1.296e1

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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MQRankSum
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DP
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FS
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SIO_000300: 1.0617e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

ReadPosRankSum
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GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65826
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.317497103128621e-4
allele num: 8630
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

BaseQRankSum
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ReadPosRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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DP
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518787400139728e-5
allele num: 65842
num of homozygotes: 0

East Asian
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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

ClippingRankSum
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SIO_000300: 6.899999999999999e-1

InbreedingCoeff
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MQRankSum
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MQ
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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DP
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BaseQRankSum
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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
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23000
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65842
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.369728e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.591e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

GenotypeDepth
all individuals: 734
bin: 7.25e1
variant carriers: 604

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 8

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 9

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 3067
bin: 7.75e1
variant carriers: 13

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5131
bin: 6.75e1
variant carriers: 9

GenotypeQuality
all individuals: 30588
bin: 9.75e1
variant carriers: 22643

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 11

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 12437
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1525
bin: 8.75e1
variant carriers: 12

GenotypeQuality
all individuals: 297
bin: 2.25e1
variant carriers: 7

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2307
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 2005
bin: 9.25e1
variant carriers: 23

GenotypeQuality
all individuals: 2628
bin: 8.25e1
variant carriers: 20

Other
type: Population
allele count: 210
allele frequency: 2.333333333333333e-1
allele num: 900
num of homozygotes: 26

European (Non-Finnish)
type: Population
allele count: 13404
allele frequency: 2.032202310561266e-1
allele num: 65958
num of homozygotes: 1367

African
type: Population
allele count: 2371
allele frequency: 2.301048136645963e-1
allele num: 10304
num of homozygotes: 302

East Asian
type: Population
allele count: 1244
allele frequency: 1.442486085343228e-1
allele num: 8624
num of homozygotes: 99

Latino
type: Population
allele count: 3452
allele frequency: 2.987709884022849e-1
allele num: 11554
num of homozygotes: 540

European (Finnish)
type: Population
allele count: 1327
allele frequency: 2.00938824954573e-1
allele num: 6604
num of homozygotes: 131

South Asian
type: Population
allele count: 3578
allele frequency: 2.167433971407802e-1
allele num: 16508
num of homozygotes: 386

BaseQRankSum
type: SiteQuality
SIO_000300: -2.914e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.82e0

QD
type: SiteQuality
SIO_000300: 1.569e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

DP
type: SiteQuality
SIO_000300: 3.817787e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeDepth
all individuals: 8792
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12940
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3790
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8338
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5039
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19366
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517773123273533e-5
allele num: 65886
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

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

FS
type: SiteQuality
SIO_000300: 1.501e0

QD
type: SiteQuality
SIO_000300: 1.404e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 2.079291e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

GenotypeDepth
all individuals: 3743
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12938
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517773123273533e-5
allele num: 65886
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.742e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 1.2697e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

QD
type: SiteQuality
SIO_000300: 1.049e1

DP
type: SiteQuality
SIO_000300: 2.079255e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

GenotypeDepth
all individuals: 384
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 12937
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3790
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19522
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3291
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8347
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517496737382015e-5
allele num: 65898
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.0794e6

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-2

FS
type: SiteQuality
SIO_000300: 2.478e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: -2.047e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

QD
type: SiteQuality
SIO_000300: 2.499e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeDepth
all individuals: 667
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8353
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12937
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 19598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.028834504482675e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65896
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.079826e6

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.215e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

GenotypeDepth
all individuals: 386
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12936
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 5037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3791
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65888
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.396e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.451e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

FS
type: SiteQuality
SIO_000300: 2.328e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

DP
type: SiteQuality
SIO_000300: 2.079577e6

GenotypeDepth
all individuals: 210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12928
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19680
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3290
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele num: 65896
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South Asian
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East Asian
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Other
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BaseQRankSum
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QD
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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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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South Asian
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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FS
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DP
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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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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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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Other
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East Asian
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BaseQRankSum
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VQSLOD
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QD
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MQ
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

East Asian
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South Asian
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African
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European (Non-Finnish)
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Latino
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Other
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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DP
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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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

European (Non-Finnish)
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Other
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Latino
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East Asian
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European (Finnish)
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South Asian
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ReadPosRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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MQ
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DP
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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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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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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 (Non-Finnish)
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allele num: 65924
num of homozygotes: 0

Latino
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East Asian
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European (Finnish)
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African
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South Asian
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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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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European (Finnish)
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Other
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African
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European (Non-Finnish)
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East Asian
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

DP
type: SiteQuality
SIO_000300: 2.080192e6

InbreedingCoeff
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SIO_000300: 1.7e-3

VQSLOD
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BaseQRankSum
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SIO_000300: 5.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.511e1

GenotypeDepth
all individuals: 75
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variant carriers: 1

GenotypeQuality
all individuals: 53
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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: 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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.550418638514743e-5
allele num: 65928
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 3.460207612456747e-4
allele num: 11560
num of homozygotes: 0

African
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allele frequency: 0.0e0
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 1.7e-3

MQ
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SIO_000300: 5.952e1

QD
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SIO_000300: 1.13e1

BaseQRankSum
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SIO_000300: -1.349e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

DP
type: SiteQuality
SIO_000300: 2.080562e6

GenotypeDepth
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variant carriers: 7

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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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

Latino
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allele frequency: 1.211282228759301e-3
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
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65928
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
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MQ
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SIO_000300: 5.954e1

QD
type: SiteQuality
SIO_000300: 1.161e1

DP
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SIO_000300: 2.080301e6

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
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SIO_000300: -4.293e0

InbreedingCoeff
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SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 5028
bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516714190377965e-5
allele num: 65932
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
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SIO_000300: -8.080000000000001e-1

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -9.694e-1

FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.846e1

QD
type: SiteQuality
SIO_000300: 1.515e1

ClippingRankSum
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SIO_000300: -1.121e0

DP
type: SiteQuality
SIO_000300: 2.079782e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8628
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

MQ
type: SiteQuality
SIO_000300: 5.972e1

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

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

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.0333363666697e-5
allele num: 65934
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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FS
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SIO_000300: 2.48e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65898
num of homozygotes: 0

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

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16508
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East Asian
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African
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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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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bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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

African
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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 frequency: 0.0e0
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Latino
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num of homozygotes: 0

Other
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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FS
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MQRankSum
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DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 7.25e1
variant carriers: 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 frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 2.919423900350331e-4
allele num: 10276
num of homozygotes: 0

European (Finnish)
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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

Other
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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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FS
type: SiteQuality
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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SIO_000300: 5.0e-3

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.931e1

ReadPosRankSum
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SIO_000300: -6.68e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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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

European (Non-Finnish)
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allele num: 65878
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.98e0

ClippingRankSum
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VQSLOD
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QD
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SIO_000300: 1.202e1

DP
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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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variant carriers: 0

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

European (Non-Finnish)
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allele 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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South Asian
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African
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Other
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Latino
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ClippingRankSum
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SIO_000300: -1.6e-1

BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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SIO_000300: 1.271e1

DP
type: SiteQuality
SIO_000300: 2.077782e6

GenotypeDepth
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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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GenotypeQuality
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.554701970667719e-5
allele num: 65866
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10274
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Latino
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Other
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European (Finnish)
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East Asian
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.036099219722501e-5
allele num: 65874
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65866
num of homozygotes: 0

Other
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Latino
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South Asian
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African
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European (Finnish)
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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MQRankSum
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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: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

Other
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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DP
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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FS
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BaseQRankSum
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SIO_000300: -3.704e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65530
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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African
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allele num: 10218
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Other
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Latino
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QD
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SIO_000300: 1.14e1

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

East Asian
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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 frequency: 1.834581868215869e-4
allele num: 65410
num of homozygotes: 0

Latino
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allele num: 11514
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African
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: 2.19e0

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

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: 6488
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.534212948757288e-5
allele num: 65180
num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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QD
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SIO_000300: 1.243e1

DP
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQRankSum
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SIO_000300: -6.26e-1

ClippingRankSum
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GenotypeDepth
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variant carriers: 1

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: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65102
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.537751806858373e-5
allele num: 65030
num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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African
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Other
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FS
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DP
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QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

Other
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allele num: 888
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European (Finnish)
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allele count: 2
allele frequency: 3.102699348433137e-4
allele num: 6446
num of homozygotes: 0

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

European (Non-Finnish)
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East Asian
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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