13-46935577-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935577
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935577
    reference: chr 13
allele count: 1
allele frequency: 8.346966712296751e-6
allele num: 119804
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*91T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1118T>C
  hgvsp: ENSP00000374558.3:p.Ile373Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.647T>C
  hgvsp: ENSP00000315633.6:p.Ile216Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.917T>C
  hgvsp: ENSP00000368061.4:p.Ile306Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1118T>C
  hgvsp: ENSP00000368074.2:p.Ile373Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1708T>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1118T>C
  hgvsp: ENSP00000396935.1:p.Ile373Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1118T>C
  hgvsp: ENSP00000368064.3:p.Ile373Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.647T>C
  hgvsp: ENSP00000386578.2:p.Ile216Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*258T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.713T>C
  hgvsp: ENSP00000437501.1:p.Ile238Thr
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile373Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

13-46935579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935579
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935579
    reference: chr 13
allele count: 12
allele frequency: 1.001719618678732e-4
allele num: 119794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1116G>A
  hgvsp: ENST00000378797.2:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1706G>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1116G>A
  hgvsp: ENST00000378787.3:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.645G>A
  hgvsp: ENST00000409879.2:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.915G>A
  hgvsp: ENST00000378784.4:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1116G>A
  hgvsp: ENST00000429979.1:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1116G>A
  hgvsp: ENST00000389908.3:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.645G>A
  hgvsp: ENST00000322896.6:c.645G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*89G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.711G>A
  hgvsp: ENST00000534925.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*256G>A
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29614
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21133
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser372Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

13-46935580-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935580
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935580
    reference: chr 13
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*88C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1115C>T
  hgvsp: ENSP00000396935.1:p.Ser372Leu
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1115C>T
  hgvsp: ENSP00000368074.2:p.Ser372Leu
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.644C>T
  hgvsp: ENSP00000386578.2:p.Ser215Leu
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.914C>T
  hgvsp: ENSP00000368061.4:p.Ser305Leu
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.644C>T
  hgvsp: ENSP00000315633.6:p.Ser215Leu
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1115C>T
  hgvsp: ENSP00000368064.3:p.Ser372Leu
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1115C>T
  hgvsp: ENSP00000374558.3:p.Ser372Leu
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*255C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1705C>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.710C>T
  hgvsp: ENSP00000437501.1:p.Ser237Leu
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29691
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser372Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

13-46935586-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935586
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935586
    reference: chr 13
allele count: 1
allele frequency: 8.34640937468701e-6
allele num: 119812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.638C>A
  hgvsp: ENSP00000386578.2:p.Ala213Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.704C>A
  hgvsp: ENSP00000437501.1:p.Ala235Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1109C>A
  hgvsp: ENSP00000374558.3:p.Ala370Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.908C>A
  hgvsp: ENSP00000368061.4:p.Ala303Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*249C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1109C>A
  hgvsp: ENSP00000368064.3:p.Ala370Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1109C>A
  hgvsp: ENSP00000368074.2:p.Ala370Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1699C>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*82C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.638C>A
  hgvsp: ENSP00000315633.6:p.Ala213Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1109C>A
  hgvsp: ENSP00000396935.1:p.Ala370Asp
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala370Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

13-46935601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935601
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935601
    reference: chr 13
allele count: 33
allele frequency: 2.765672142138786e-4
allele num: 119320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*234G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1094G>A
  hgvsp: ENSP00000396935.1:p.Gly365Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.893G>A
  hgvsp: ENSP00000368061.4:p.Gly298Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1094G>A
  hgvsp: ENSP00000374558.3:p.Gly365Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*67G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1094G>A
  hgvsp: ENSP00000368074.2:p.Gly365Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.689G>A
  hgvsp: ENSP00000437501.1:p.Gly230Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.623G>A
  hgvsp: ENSP00000315633.6:p.Gly208Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1684G>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1094G>A
  hgvsp: ENSP00000368064.3:p.Gly365Asp
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.623G>A
  hgvsp: ENSP00000386578.2:p.Gly208Asp
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29071
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21632
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly365Asp
num of homozygotes: 1
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

13-46935602-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935602
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935602
    reference: chr 13
allele count: 1
allele frequency: 8.385041086701324e-6
allele num: 119260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1093G>C
  hgvsp: ENSP00000368064.3:p.Gly365Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.892G>C
  hgvsp: ENSP00000368061.4:p.Gly298Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*233G>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1093G>C
  hgvsp: ENSP00000368074.2:p.Gly365Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1093G>C
  hgvsp: ENSP00000396935.1:p.Gly365Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1093G>C
  hgvsp: ENSP00000374558.3:p.Gly365Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.688G>C
  hgvsp: ENSP00000437501.1:p.Gly230Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.622G>C
  hgvsp: ENSP00000315633.6:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.622G>C
  hgvsp: ENSP00000386578.2:p.Gly208Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*66G>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1683G>C
  variant of: http://identifiers.org/hgnc/16319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28988
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly365Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/13-46935605-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935605
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935605
    reference: chr 13
allele count: 1
allele frequency: 8.397715821296607e-6
allele num: 119080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1090G>T
  hgvsp: ENSP00000368064.3:p.Ala364Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*230G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1090G>T
  hgvsp: ENSP00000374558.3:p.Ala364Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.889G>T
  hgvsp: ENSP00000368061.4:p.Ala297Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1680G>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.619G>T
  hgvsp: ENSP00000386578.2:p.Ala207Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*63G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1090G>T
  hgvsp: ENSP00000368074.2:p.Ala364Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.685G>T
  hgvsp: ENSP00000437501.1:p.Ala229Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.619G>T
  hgvsp: ENSP00000315633.6:p.Ala207Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1090G>T
  hgvsp: ENSP00000396935.1:p.Ala364Ser
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala364Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

13-46935613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935613
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935613
    reference: chr 13
allele count: 1
allele frequency: 8.442523301364311e-6
allele num: 118448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.881C>T
  hgvsp: ENSP00000368061.4:p.Ser294Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.611C>T
  hgvsp: ENSP00000386578.2:p.Ser204Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1082C>T
  hgvsp: ENSP00000368064.3:p.Ser361Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.677C>T
  hgvsp: ENSP00000437501.1:p.Ser226Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1082C>T
  hgvsp: ENSP00000374558.3:p.Ser361Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1082C>T
  hgvsp: ENSP00000368074.2:p.Ser361Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.611C>T
  hgvsp: ENSP00000315633.6:p.Ser204Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*55C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*222C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1082C>T
  hgvsp: ENSP00000396935.1:p.Ser361Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1672C>T
  variant of: http://identifiers.org/hgnc/16319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser361Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

13-46935621-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935621
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935621
    reference: chr 13
allele count: 1
allele frequency: 8.537085097664253e-6
allele num: 117136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1074A>G
  hgvsp: ENST00000378787.3:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.873A>G
  hgvsp: ENST00000378784.4:c.873A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1074A>G
  hgvsp: ENST00000389908.3:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.603A>G
  hgvsp: ENST00000409879.2:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.603A>G
  hgvsp: ENST00000322896.6:c.603A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1074A>G
  hgvsp: ENST00000429979.1:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1664A>G
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*214A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1074A>G
  hgvsp: ENST00000378797.2:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*47A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.669A>G
  hgvsp: ENST00000534925.1:c.669A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val358Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

13-46935627-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935627
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935627
    reference: chr 13
allele count: 1
allele frequency: 8.655760408551892e-6
allele num: 115530
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1658G>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1068G>C
  hgvsp: ENST00000389908.3:c.1068G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1068G>C
  hgvsp: ENST00000378787.3:c.1068G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.597G>C
  hgvsp: ENST00000409879.2:c.597G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1068G>C
  hgvsp: ENST00000378797.2:c.1068G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*41G>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.867G>C
  hgvsp: ENST00000378784.4:c.867G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.597G>C
  hgvsp: ENST00000322896.6:c.597G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.663G>C
  hgvsp: ENST00000534925.1:c.663G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1068G>C
  hgvsp: ENST00000429979.1:c.1068G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*208G>C
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu356Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

13-46935628-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935628
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935628
    reference: chr 13
allele count: 2
allele frequency: 1.731182051104494e-5
allele num: 115528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1067T>A
  hgvsp: ENSP00000368064.3:p.Leu356Gln
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1067T>A
  hgvsp: ENSP00000368074.2:p.Leu356Gln
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1657T>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*207T>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.662T>A
  hgvsp: ENSP00000437501.1:p.Leu221Gln
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1067T>A
  hgvsp: ENSP00000374558.3:p.Leu356Gln
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.596T>A
  hgvsp: ENSP00000386578.2:p.Leu199Gln
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.596T>A
  hgvsp: ENSP00000315633.6:p.Leu199Gln
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*40T>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.866T>A
  hgvsp: ENSP00000368061.4:p.Leu289Gln
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1067T>A
  hgvsp: ENSP00000396935.1:p.Leu356Gln
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25701
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu356Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

http://identifiers.org/exac.variant/13-46935633-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935633
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935633
    reference: chr 13
allele count: 1
allele frequency: 8.764088271897075e-6
allele num: 114102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*202G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1062G>T
  hgvsp: ENSP00000396935.1:p.Trp354Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1062G>T
  hgvsp: ENSP00000368064.3:p.Trp354Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1062G>T
  hgvsp: ENSP00000368074.2:p.Trp354Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.861G>T
  hgvsp: ENSP00000368061.4:p.Trp287Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1062G>T
  hgvsp: ENSP00000374558.3:p.Trp354Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.591G>T
  hgvsp: ENSP00000386578.2:p.Trp197Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1652G>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.591G>T
  hgvsp: ENSP00000315633.6:p.Trp197Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*35G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.657G>T
  hgvsp: ENSP00000437501.1:p.Trp219Cys
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp354Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

13-46935635-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935635
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935634
    reference: chr 13
allele count: 1
allele frequency: 8.847678369195924e-6
allele num: 113024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.588delC
  hgvsp: ENSP00000315633.6:p.Trp197GlyfsTer5
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1059delC
  hgvsp: ENSP00000396935.1:p.Trp354GlyfsTer5
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1059delC
  hgvsp: ENSP00000368064.3:p.Trp354GlyfsTer5
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*32delC
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.588delC
  hgvsp: ENSP00000386578.2:p.Trp197GlyfsTer5
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*199delC
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1059delC
  hgvsp: ENSP00000368074.2:p.Trp354GlyfsTer5
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1649delC
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.858delC
  hgvsp: ENSP00000368061.4:p.Trp287GlyfsTer5
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1059delC
  hgvsp: ENSP00000374558.3:p.Trp354GlyfsTer5
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.654delC
  hgvsp: ENSP00000437501.1:p.Trp219GlyfsTer5
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21054
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp354GlyfsTer5
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: AG
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

13-46935650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935650
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935650
    reference: chr 13
allele count: 17
allele frequency: 1.744591765526867e-4
allele num: 97444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.640G>A
  hgvsp: ENSP00000437501.1:p.Val214Met
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1045G>A
  hgvsp: ENSP00000368064.3:p.Val349Met
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1045G>A
  hgvsp: ENSP00000368074.2:p.Val349Met
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1635G>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*185G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.844G>A
  hgvsp: ENSP00000368061.4:p.Val282Met
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.574G>A
  hgvsp: ENSP00000315633.6:p.Val192Met
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.574G>A
  hgvsp: ENSP00000386578.2:p.Val192Met
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1045G>A
  hgvsp: ENSP00000396935.1:p.Val349Met
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1045G>A
  hgvsp: ENSP00000374558.3:p.Val349Met
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*18G>A
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15159
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11588
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val349Met
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

13-46935651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935651
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935651
    reference: chr 13
allele count: 28
allele frequency: 2.877283844051216e-4
allele num: 97314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1044C>T
  hgvsp: ENST00000378787.3:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.843C>T
  hgvsp: ENST00000378784.4:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*17C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.573C>T
  hgvsp: ENST00000409879.2:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*184C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1044C>T
  hgvsp: ENST00000389908.3:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.639C>T
  hgvsp: ENST00000534925.1:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1044C>T
  hgvsp: ENST00000378797.2:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.573C>T
  hgvsp: ENST00000322896.6:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1044C>T
  hgvsp: ENST00000429979.1:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1634C>T
  variant of: http://identifiers.org/hgnc/16319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Arg348Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

13-46935652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935652
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935652
    reference: chr 13
allele count: 384
allele frequency: 4.005841852701857e-3
allele num: 95860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.842G>A
  hgvsp: ENSP00000368061.4:p.Arg281His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1043G>A
  hgvsp: ENSP00000396935.1:p.Arg348His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1633G>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.572G>A
  hgvsp: ENSP00000386578.2:p.Arg191His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.572G>A
  hgvsp: ENSP00000315633.6:p.Arg191His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*183G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*16G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1043G>A
  hgvsp: ENSP00000374558.3:p.Arg348His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1043G>A
  hgvsp: ENSP00000368074.2:p.Arg348His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.638G>A
  hgvsp: ENSP00000437501.1:p.Arg213His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1043G>A
  hgvsp: ENSP00000368064.3:p.Arg348His
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10192
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 1.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15103
  bin: 2.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 14359
  bin: 2.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Arg348His
num of homozygotes: 4
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

13-46935653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935653
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935653
    reference: chr 13
allele count: 4
allele frequency: 4.193839250141542e-5
allele num: 95378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.571C>T
  hgvsp: ENSP00000386578.2:p.Arg191Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1632C>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.841C>T
  hgvsp: ENSP00000368061.4:p.Arg281Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1042C>T
  hgvsp: ENSP00000396935.1:p.Arg348Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1042C>T
  hgvsp: ENSP00000368074.2:p.Arg348Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.571C>T
  hgvsp: ENSP00000315633.6:p.Arg191Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.637C>T
  hgvsp: ENSP00000437501.1:p.Arg213Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*15C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1042C>T
  hgvsp: ENSP00000374558.3:p.Arg348Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1042C>T
  hgvsp: ENSP00000368064.3:p.Arg348Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*182C>T
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg348Cys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

13-46935656-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935656
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935656
    reference: chr 13
allele count: 4
allele frequency: 4.323202628507198e-5
allele num: 92524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.634T>C
  hgvsp: ENSP00000437501.1:p.Tyr212His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.568T>C
  hgvsp: ENSP00000386578.2:p.Tyr190His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1039T>C
  hgvsp: ENSP00000368074.2:p.Tyr347His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.838T>C
  hgvsp: ENSP00000368061.4:p.Tyr280His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*12T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.568T>C
  hgvsp: ENSP00000315633.6:p.Tyr190His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*179T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1039T>C
  hgvsp: ENSP00000374558.3:p.Tyr347His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1039T>C
  hgvsp: ENSP00000368064.3:p.Tyr347His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1039T>C
  hgvsp: ENSP00000396935.1:p.Tyr347His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1629T>C
  variant of: http://identifiers.org/hgnc/16319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr347His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

13-46935663-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935663
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935663
    reference: chr 13
allele count: 2
allele frequency: 2.301443004763987e-5
allele num: 86902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1032A>C
  hgvsp: ENSP00000368074.2:p.Lys344Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.*5A>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*172A>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.561A>C
  hgvsp: ENSP00000386578.2:p.Lys187Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1032A>C
  hgvsp: ENSP00000368064.3:p.Lys344Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1032A>C
  hgvsp: ENSP00000396935.1:p.Lys344Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.561A>C
  hgvsp: ENSP00000315633.6:p.Lys187Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1622A>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.831A>C
  hgvsp: ENSP00000368061.4:p.Lys277Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1032A>C
  hgvsp: ENSP00000374558.3:p.Lys344Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.627A>C
  hgvsp: ENSP00000437501.1:p.Lys209Asn
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys344Asn
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: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-46935671-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935671
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935671
    reference: chr 13
allele count: 1
allele frequency: 1.241495754084521e-5
allele num: 80548
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1614T>G
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.553T>G
  hgvsp: ENSP00000386578.2:p.Leu185Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*164T>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.963T>G
  hgvsp: ENSP00000368057.3:p.Tyr321Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.619T>G
  hgvsp: ENSP00000437501.1:p.Leu207Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1024T>G
  hgvsp: ENSP00000396935.1:p.Leu342Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1024T>G
  hgvsp: ENSP00000368074.2:p.Leu342Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.823T>G
  hgvsp: ENSP00000368061.4:p.Leu275Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1024T>G
  hgvsp: ENSP00000368064.3:p.Leu342Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1024T>G
  hgvsp: ENSP00000374558.3:p.Leu342Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.553T>G
  hgvsp: ENSP00000315633.6:p.Leu185Val
  variant of: http://identifiers.org/hgnc/20420
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr321Ter
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

13-46935672-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935672
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935672
    reference: chr 13
allele count: 3
allele frequency: 3.727356310414234e-5
allele num: 80486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.552A>G
  hgvsp: ENST00000409879.2:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1613A>G
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1023A>G
  hgvsp: ENST00000378797.2:c.1023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.552A>G
  hgvsp: ENST00000322896.6:c.552A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.822A>G
  hgvsp: ENST00000378784.4:c.822A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1023A>G
  hgvsp: ENST00000429979.1:c.1023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1023A>G
  hgvsp: ENST00000389908.3:c.1023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.962A>G
  hgvsp: ENSP00000368057.3:p.Tyr321Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1023A>G
  hgvsp: ENST00000378787.3:c.1023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.618A>G
  hgvsp: ENST00000534925.1:c.618A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*163A>G
  variant of: http://identifiers.org/hgnc/20420
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr321Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

13-46935673-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935673
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935673
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 79536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.551T>C
  hgvsp: ENSP00000386578.2:p.Leu184Pro
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1022T>C
  hgvsp: ENSP00000368074.2:p.Leu341Pro
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1022T>C
  hgvsp: ENSP00000368064.3:p.Leu341Pro
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.551T>C
  hgvsp: ENSP00000315633.6:p.Leu184Pro
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1022T>C
  hgvsp: ENSP00000396935.1:p.Leu341Pro
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.617T>C
  hgvsp: ENSP00000437501.1:p.Leu206Pro
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.961T>C
  hgvsp: ENSP00000368057.3:p.Tyr321His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1022T>C
  hgvsp: ENSP00000374558.3:p.Leu341Pro
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*162T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.821T>C
  hgvsp: ENSP00000368061.4:p.Leu274Pro
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1612T>C
  variant of: http://identifiers.org/hgnc/16319
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19495
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu341Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

13-46935673-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935673
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935672
    reference: chr 13
allele count: 1
allele frequency: 1.257292295312814e-5
allele num: 79536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.960delC
  hgvsp: ENSP00000368057.3:p.Tyr321IlefsTer19
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1611delC
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.616delC
  hgvsp: ENSP00000437501.1:p.Leu206TyrfsTer2
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1021delC
  hgvsp: ENSP00000368074.2:p.Leu341TyrfsTer2
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1021delC
  hgvsp: ENSP00000374558.3:p.Leu341TyrfsTer2
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.820delC
  hgvsp: ENSP00000368061.4:p.Leu274TyrfsTer2
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.550delC
  hgvsp: ENSP00000315633.6:p.Leu184TyrfsTer2
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1021delC
  hgvsp: ENSP00000368064.3:p.Leu341TyrfsTer2
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*161delC
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1021delC
  hgvsp: ENSP00000396935.1:p.Leu341TyrfsTer2
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.550delC
  hgvsp: ENSP00000386578.2:p.Leu184TyrfsTer2
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu341TyrfsTer2
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: AG
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

13-46935676-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935676
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935676
    reference: chr 13
allele count: 1
allele frequency: 1.285049731424606e-5
allele num: 77818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1019A>C
  hgvsp: ENSP00000368064.3:p.Glu340Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.548A>C
  hgvsp: ENSP00000386578.2:p.Glu183Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.818A>C
  hgvsp: ENSP00000368061.4:p.Glu273Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1019A>C
  hgvsp: ENSP00000374558.3:p.Glu340Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1609A>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.614A>C
  hgvsp: ENSP00000437501.1:p.Glu205Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.548A>C
  hgvsp: ENSP00000315633.6:p.Glu183Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.958A>C
  hgvsp: ENSP00000368057.3:p.Asn320His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1019A>C
  hgvsp: ENSP00000368074.2:p.Glu340Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1019A>C
  hgvsp: ENSP00000396935.1:p.Glu340Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*159A>C
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15067
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu340Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

13-46935685-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935685
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935685
    reference: chr 13
allele count: 22
allele frequency: 3.0322242743336e-4
allele num: 72554
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1600A>G
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.809A>G
  hgvsp: ENSP00000368061.4:p.Asn270Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1010A>G
  hgvsp: ENSP00000374558.3:p.Asn337Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.605A>G
  hgvsp: ENSP00000437501.1:p.Asn202Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*150A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1010A>G
  hgvsp: ENSP00000368074.2:p.Asn337Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.539A>G
  hgvsp: ENSP00000315633.6:p.Asn180Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1010A>G
  hgvsp: ENSP00000368064.3:p.Asn337Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.539A>G
  hgvsp: ENSP00000386578.2:p.Asn180Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1010A>G
  hgvsp: ENSP00000396935.1:p.Asn337Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.949A>G
  hgvsp: ENSP00000368057.3:p.Ile317Val
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15750
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21799
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn337Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum

13-46935690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935690
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935690
    reference: chr 13
allele count: 1
allele frequency: 1.437111979765463e-5
allele num: 69584
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.1005C>T
  hgvsp: ENST00000429979.1:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.944C>T
  hgvsp: ENSP00000368057.3:p.Thr315Ile
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.600C>T
  hgvsp: ENST00000534925.1:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.1005C>T
  hgvsp: ENST00000389908.3:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.1005C>T
  hgvsp: ENST00000378787.3:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.1005C>T
  hgvsp: ENST00000378797.2:c.1005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.534C>T
  hgvsp: ENST00000322896.6:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.534C>T
  hgvsp: ENST00000409879.2:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*145C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.804C>T
  hgvsp: ENST00000378784.4:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1595C>T
  variant of: http://identifiers.org/hgnc/16319
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15922
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr315Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

13-46935698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935698
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935698
    reference: chr 13
allele count: 1
allele frequency: 1.571289400081707e-5
allele num: 63642
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1587G>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.592G>A
  hgvsp: ENSP00000437501.1:p.Glu198Lys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.997G>A
  hgvsp: ENSP00000396935.1:p.Glu333Lys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.997G>A
  hgvsp: ENSP00000368074.2:p.Glu333Lys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.526G>A
  hgvsp: ENSP00000315633.6:p.Glu176Lys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.997G>A
  hgvsp: ENSP00000374558.3:p.Glu333Lys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.997G>A
  hgvsp: ENSP00000368064.3:p.Glu333Lys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.936G>A
  hgvsp: ENSP00000368057.3:p.Met312Ile
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.526G>A
  hgvsp: ENSP00000386578.2:p.Glu176Lys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*137G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.796G>A
  hgvsp: ENSP00000368061.4:p.Glu266Lys
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15767
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu333Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum

13-46935699-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935699
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935699
    reference: chr 13
allele count: 1
allele frequency: 1.569021244547651e-5
allele num: 63734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.935T>C
  hgvsp: ENSP00000368057.3:p.Met312Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.996T>C
  hgvsp: ENST00000389908.3:c.996T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.996T>C
  hgvsp: ENST00000378797.2:c.996T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1586T>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.525T>C
  hgvsp: ENST00000409879.2:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.996T>C
  hgvsp: ENST00000429979.1:c.996T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.996T>C
  hgvsp: ENST00000378787.3:c.996T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.795T>C
  hgvsp: ENST00000378784.4:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.591T>C
  hgvsp: ENST00000534925.1:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.525T>C
  hgvsp: ENST00000322896.6:c.525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*136T>C
  variant of: http://identifiers.org/hgnc/20420
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met312Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

13-46935742-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46935742
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46935742
    reference: chr 13
allele count: 1
allele frequency: 3.197135366711427e-5
allele num: 31278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.516-34T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1577-34T>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.987-34T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.987-34T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.987-34T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*127-34T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.582-34T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.926-34T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.786-34T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.516-34T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.987-34T>C
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

13-46936645-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936645
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936645
    reference: chr 13
allele count: 1
allele frequency: 1.371441110318723e-5
allele num: 72916
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1576+28T>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.986+28T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.986+28T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.581+28T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.986+28T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.785+28T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+605T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*126+28T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.986+28T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.515+28T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.515+28T>C
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

13-46936647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936647
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936647
    reference: chr 13
allele count: 5
allele frequency: 6.842191690842411e-5
allele num: 73076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+603C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.515+26C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.986+26C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.986+26C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.581+26C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*126+26C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.986+26C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1576+26C>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.515+26C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.785+26C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.986+26C>T
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14587
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5788
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

13-46936652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936652
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936652
    reference: chr 13
allele count: 1
allele frequency: 1.343797032896151e-5
allele num: 74416
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1576+21G>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.986+21G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.986+21G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.581+21G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.515+21G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.785+21G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+598G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.986+21G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*126+21G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.515+21G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.986+21G>A
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

13-46936661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936661
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936661
    reference: chr 13
allele count: 1
allele frequency: 1.291689271228913e-5
allele num: 77418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.785+12C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+589C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.986+12C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.986+12C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.581+12C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.986+12C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.986+12C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.515+12C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1576+12C>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*126+12C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.515+12C>T
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10516
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

13-46936670-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936670
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936670
    reference: chr 13
allele count: 1
allele frequency: 1.243193515502623e-5
allele num: 80438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.515+3A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.986+3A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.986+3A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.986+3A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*126+3A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.581+3A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.515+3A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+580A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1576+3A>G
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.986+3A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.785+3A>G
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.986+3A>G
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

13-46936672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936672
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936672
    reference: chr 13
allele count: 11
allele frequency: 1.358360088910842e-4
allele num: 80980
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.986+1G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.581+1G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1576+1G>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.986+1G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+578G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.986+1G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.785+1G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.515+1G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.986+1G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*126+1G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.515+1G>A
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20820
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19283
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21367
  bin: 6.25e1
  variant carriers: 1
hgvs: c.986+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

13-46936674-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936674
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936674
    reference: chr 13
allele count: 1
allele frequency: 1.225430125974217e-5
allele num: 81604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+576A>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.985A>T
  hgvsp: ENSP00000368074.2:p.Ser329Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.580A>T
  hgvsp: ENSP00000437501.1:p.Ser194Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.784A>T
  hgvsp: ENSP00000368061.4:p.Ser262Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.985A>T
  hgvsp: ENSP00000396935.1:p.Ser329Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.985A>T
  hgvsp: ENSP00000374558.3:p.Ser329Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*125A>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.985A>T
  hgvsp: ENSP00000368064.3:p.Ser329Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.514A>T
  hgvsp: ENSP00000315633.6:p.Ser172Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.514A>T
  hgvsp: ENSP00000386578.2:p.Ser172Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1575A>T
  variant of: http://identifiers.org/hgnc/16319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser329Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-46936680-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936680
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936680
    reference: chr 13
allele count: 1
allele frequency: 1.201143488601148e-5
allele num: 83254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.574T>G
  hgvsp: ENSP00000437501.1:p.Ser192Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.778T>G
  hgvsp: ENSP00000368061.4:p.Ser260Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.979T>G
  hgvsp: ENSP00000396935.1:p.Ser327Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.508T>G
  hgvsp: ENSP00000315633.6:p.Ser170Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*119T>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.979T>G
  hgvsp: ENSP00000374558.3:p.Ser327Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.979T>G
  hgvsp: ENSP00000368064.3:p.Ser327Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.508T>G
  hgvsp: ENSP00000386578.2:p.Ser170Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.979T>G
  hgvsp: ENSP00000368074.2:p.Ser327Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1569T>G
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+570T>G
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser327Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

13-46936689-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936689
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936688
    reference: chr 13
allele count: 1
allele frequency: 1.169098391320613e-5
allele num: 85536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.768delC
  hgvsp: ENSP00000368061.4:p.Cys257AlafsTer19
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.498delC
  hgvsp: ENSP00000315633.6:p.Cys167AlafsTer19
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.498delC
  hgvsp: ENSP00000386578.2:p.Cys167AlafsTer19
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+560delC
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.969delC
  hgvsp: ENSP00000374558.3:p.Cys324AlafsTer19
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.969delC
  hgvsp: ENSP00000368074.2:p.Cys324AlafsTer19
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1559delC
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*109delC
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.969delC
  hgvsp: ENSP00000368064.3:p.Cys324AlafsTer19
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.969delC
  hgvsp: ENSP00000396935.1:p.Cys324AlafsTer19
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.564delC
  hgvsp: ENSP00000437501.1:p.Cys189AlafsTer19
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys324AlafsTer19
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: AG
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

13-46936693-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936693
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936693
    reference: chr 13
allele count: 1
allele frequency: 1.159581622950439e-5
allele num: 86238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+557T>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.495T>A
  hgvsp: ENSP00000315633.6:p.Cys165Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.966T>A
  hgvsp: ENSP00000368064.3:p.Cys322Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.561T>A
  hgvsp: ENSP00000437501.1:p.Cys187Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.966T>A
  hgvsp: ENSP00000368074.2:p.Cys322Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.966T>A
  hgvsp: ENSP00000396935.1:p.Cys322Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.765T>A
  hgvsp: ENSP00000368061.4:p.Cys255Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.966T>A
  hgvsp: ENSP00000374558.3:p.Cys322Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1556T>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.495T>A
  hgvsp: ENSP00000386578.2:p.Cys165Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*106T>A
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys322Ter
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

13-46936694-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936694
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936694
    reference: chr 13
allele count: 1
allele frequency: 1.158990287661389e-5
allele num: 86282
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.965G>C
  hgvsp: ENSP00000396935.1:p.Cys322Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.965G>C
  hgvsp: ENSP00000368074.2:p.Cys322Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.560G>C
  hgvsp: ENSP00000437501.1:p.Cys187Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+556G>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.965G>C
  hgvsp: ENSP00000374558.3:p.Cys322Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.965G>C
  hgvsp: ENSP00000368064.3:p.Cys322Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.494G>C
  hgvsp: ENSP00000315633.6:p.Cys165Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.764G>C
  hgvsp: ENSP00000368061.4:p.Cys255Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.494G>C
  hgvsp: ENSP00000386578.2:p.Cys165Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*105G>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1555G>C
  variant of: http://identifiers.org/hgnc/16319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys322Ser
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: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

13-46936700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936700
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936700
    reference: chr 13
allele count: 4
allele frequency: 4.622994776015903e-5
allele num: 86524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.959G>A
  hgvsp: ENSP00000374558.3:p.Cys320Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.959G>A
  hgvsp: ENSP00000368074.2:p.Cys320Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.488G>A
  hgvsp: ENSP00000315633.6:p.Cys163Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.554G>A
  hgvsp: ENSP00000437501.1:p.Cys185Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*99G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.488G>A
  hgvsp: ENSP00000386578.2:p.Cys163Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1549G>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.959G>A
  hgvsp: ENSP00000368064.3:p.Cys320Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.758G>A
  hgvsp: ENSP00000368061.4:p.Cys253Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+550G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.959G>A
  hgvsp: ENSP00000396935.1:p.Cys320Tyr
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23865
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys320Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

13-46936713-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936713
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936713
    reference: chr 13
allele count: 1
allele frequency: 1.169207744832102e-5
allele num: 85528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.946A>G
  hgvsp: ENSP00000368074.2:p.Ile316Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.946A>G
  hgvsp: ENSP00000396935.1:p.Ile316Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1536A>G
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.475A>G
  hgvsp: ENSP00000386578.2:p.Ile159Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.745A>G
  hgvsp: ENSP00000368061.4:p.Ile249Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*86A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.475A>G
  hgvsp: ENSP00000315633.6:p.Ile159Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.946A>G
  hgvsp: ENSP00000368064.3:p.Ile316Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.946A>G
  hgvsp: ENSP00000374558.3:p.Ile316Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.541A>G
  hgvsp: ENSP00000437501.1:p.Ile181Val
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+537A>G
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile316Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

13-46936714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936714
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936714
    reference: chr 13
allele count: 1
allele frequency: 1.176692083215664e-5
allele num: 84984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*85T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.474T>C
  hgvsp: ENST00000322896.6:c.474T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.945T>C
  hgvsp: ENST00000429979.1:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1535T>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.945T>C
  hgvsp: ENST00000389908.3:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.744T>C
  hgvsp: ENST00000378784.4:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.945T>C
  hgvsp: ENST00000378787.3:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.945T>C
  hgvsp: ENST00000378797.2:c.945T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.474T>C
  hgvsp: ENST00000409879.2:c.474T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+536T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.540T>C
  hgvsp: ENST00000534925.1:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp315Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

13-46936718-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936718
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936718
    reference: chr 13
allele count: 2
allele frequency: 2.360661929605061e-5
allele num: 84722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.470A>G
  hgvsp: ENSP00000386578.2:p.Asn157Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.941A>G
  hgvsp: ENSP00000368064.3:p.Asn314Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*81A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.470A>G
  hgvsp: ENSP00000315633.6:p.Asn157Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.740A>G
  hgvsp: ENSP00000368061.4:p.Asn247Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.941A>G
  hgvsp: ENSP00000368074.2:p.Asn314Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.941A>G
  hgvsp: ENSP00000374558.3:p.Asn314Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1531A>G
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+532A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.536A>G
  hgvsp: ENSP00000437501.1:p.Asn179Ser
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.941A>G
  hgvsp: ENSP00000396935.1:p.Asn314Ser
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn314Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

13-46936731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936731
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936731
    reference: chr 13
allele count: 1
allele frequency: 1.221090678193763e-5
allele num: 81894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.928C>T
  hgvsp: ENSP00000374558.3:p.Leu310Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.928C>T
  hgvsp: ENSP00000368074.2:p.Leu310Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.523C>T
  hgvsp: ENSP00000437501.1:p.Leu175Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+519C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.928C>T
  hgvsp: ENSP00000368064.3:p.Leu310Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.457C>T
  hgvsp: ENSP00000315633.6:p.Leu153Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1518C>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.928C>T
  hgvsp: ENSP00000396935.1:p.Leu310Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.457C>T
  hgvsp: ENSP00000386578.2:p.Leu153Phe
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*68C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.727C>T
  hgvsp: ENSP00000368061.4:p.Leu243Phe
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15762
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu310Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

13-46936738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936738
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936738
    reference: chr 13
allele count: 1
allele frequency: 1.246230153784801e-5
allele num: 80242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.926-5C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.521-5C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1516-5C>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.455-5C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.926-5C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.926-5C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.926-5C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.725-5C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.455-5C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*66-5C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+512C>T
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.926-5C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

13-46936746-AAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936746
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936742
    reference: chr 13
allele count: 3
allele frequency: 3.806237153949606e-5
allele num: 78818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.926-17_926-14delCTTT
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1516-17_1516-14delCTTT
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.926-17_926-14delCTTT
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.926-17_926-14delCTTT
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+500_925+503delCTTT
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*66-17_*66-14delCTTT
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.725-17_725-14delCTTT
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.521-17_521-14delCTTT
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.926-17_926-14delCTTT
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.455-17_455-14delCTTT
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.455-17_455-14delCTTT
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18878
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: AAAAG
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

13-46936759-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936759
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936759
    reference: chr 13
allele count: 3
allele frequency: 3.993291270665283e-5
allele num: 75126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.521-26C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.926-26C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.926-26C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1516-26C>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+491C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.926-26C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*66-26C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.455-26C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.725-26C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.926-26C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.455-26C>A
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18713
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19448
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

13-46936769-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46936769
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46936769
    reference: chr 13
allele count: 1
allele frequency: 1.441296013375227e-5
allele num: 69382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.725-36A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.455-36A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.926-36A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+481A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*66-36A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.521-36A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.926-36A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1516-36A>G
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.926-36A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.926-36A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.455-36A>G
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20351
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

13-46937202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937202
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937202
    reference: chr 13
allele count: 7
allele frequency: 6.250781347668459e-5
allele num: 111986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.925+48C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.925+48C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.925+48C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.520+48C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*65+48C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1515+48C>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.724+48C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.454+48C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+48C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.925+48C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.454+48C>T
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9423
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14506
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13993
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

13-46937206-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937206
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937206
    reference: chr 13
allele count: 1
allele frequency: 8.898222135217384e-6
allele num: 112382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.925+44A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+44A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.925+44A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1515+44A>G
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.454+44A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*65+44A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.520+44A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.925+44A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.925+44A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.724+44A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.454+44A>G
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15661
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

13-46937213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937213
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937213
    reference: chr 13
allele count: 2
allele frequency: 1.766971763791215e-5
allele num: 113188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.925+37C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.925+37C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.925+37C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.925+37C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+37C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*65+37C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.454+37C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.724+37C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.454+37C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1515+37C>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.520+37C>T
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10131
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS

13-46937224-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937224
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937224
    reference: chr 13
allele count: 21
allele frequency: 1.832332821443529e-4
allele num: 114608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*65+26T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.925+26T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.454+26T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.520+26T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.925+26T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1515+26T>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.724+26T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.925+26T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.925+26T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+26T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.454+26T>C
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25794
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12786
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-46937228-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937228
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937228
    reference: chr 13
allele count: 2
allele frequency: 1.736171394840099e-5
allele num: 115196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.454+22G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.724+22G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.925+22G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1515+22G>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+22G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.925+22G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.925+22G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.454+22G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.520+22G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.925+22G>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*65+22G>T
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27580
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

13-46937234-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937234
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937234
    reference: chr 13
allele count: 4
allele frequency: 3.4331227684702e-5
allele num: 116512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.925+16T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1515+16T>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.454+16T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.925+16T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.724+16T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.520+16T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.925+16T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.454+16T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.925+16T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*65+16T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+16T>C
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

13-46937244-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937244
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937244
    reference: chr 13
allele count: 1
allele frequency: 8.455801525426595e-6
allele num: 118262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.925+6A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.724+6A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.925+6A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*65+6A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.925+6A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1515+6A>G
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.925+6A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.925+6A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.520+6A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.454+6A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.454+6A>G
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.925+6A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

13-46937255-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937255
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937255
    reference: chr 13
allele count: 2
allele frequency: 1.670257720766314e-5
allele num: 119742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.920T>C
  hgvsp: ENSP00000368057.3:p.Ile307Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.920T>C
  hgvsp: ENSP00000368074.2:p.Ile307Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.920T>C
  hgvsp: ENSP00000374558.3:p.Ile307Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.449T>C
  hgvsp: ENSP00000386578.2:p.Ile150Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.920T>C
  hgvsp: ENSP00000396935.1:p.Ile307Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.515T>C
  hgvsp: ENSP00000437501.1:p.Ile172Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1510T>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.449T>C
  hgvsp: ENSP00000315633.6:p.Ile150Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.719T>C
  hgvsp: ENSP00000368061.4:p.Ile240Thr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*60T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.920T>C
  hgvsp: ENSP00000368064.3:p.Ile307Thr
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile307Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

13-46937264-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937264
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937264
    reference: chr 13
allele count: 4
allele frequency: 3.323915572544457e-5
allele num: 120340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.911A>C
  hgvsp: ENSP00000368057.3:p.Glu304Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.440A>C
  hgvsp: ENSP00000386578.2:p.Glu147Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.911A>C
  hgvsp: ENSP00000368074.2:p.Glu304Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.440A>C
  hgvsp: ENSP00000315633.6:p.Glu147Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*51A>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.911A>C
  hgvsp: ENSP00000374558.3:p.Glu304Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.911A>C
  hgvsp: ENSP00000396935.1:p.Glu304Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.506A>C
  hgvsp: ENSP00000437501.1:p.Glu169Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1501A>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.710A>C
  hgvsp: ENSP00000368061.4:p.Glu237Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.911A>C
  hgvsp: ENSP00000368064.3:p.Glu304Ala
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16451
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu304Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/13-46937274-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937274
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937274
    reference: chr 13
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.901G>T
  hgvsp: ENSP00000368057.3:p.Asp301Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.901G>T
  hgvsp: ENSP00000368064.3:p.Asp301Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.430G>T
  hgvsp: ENSP00000386578.2:p.Asp144Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.496G>T
  hgvsp: ENSP00000437501.1:p.Asp166Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1491G>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.901G>T
  hgvsp: ENSP00000368074.2:p.Asp301Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.430G>T
  hgvsp: ENSP00000315633.6:p.Asp144Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.901G>T
  hgvsp: ENSP00000374558.3:p.Asp301Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.901G>T
  hgvsp: ENSP00000396935.1:p.Asp301Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.700G>T
  hgvsp: ENSP00000368061.4:p.Asp234Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*41G>T
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp301Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

13-46937274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937274
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937274
    reference: chr 13
allele count: 15
allele frequency: 1.242503561843544e-4
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.430G>A
  hgvsp: ENSP00000315633.6:p.Asp144Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.901G>A
  hgvsp: ENSP00000368064.3:p.Asp301Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.901G>A
  hgvsp: ENSP00000374558.3:p.Asp301Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.901G>A
  hgvsp: ENSP00000396935.1:p.Asp301Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.430G>A
  hgvsp: ENSP00000386578.2:p.Asp144Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1491G>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.901G>A
  hgvsp: ENSP00000368074.2:p.Asp301Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.901G>A
  hgvsp: ENSP00000368057.3:p.Asp301Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.700G>A
  hgvsp: ENSP00000368061.4:p.Asp234Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.496G>A
  hgvsp: ENSP00000437501.1:p.Asp166Asn
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*41G>A
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp301Asn
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

13-46937275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937275
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937275
    reference: chr 13
allele count: 2
allele frequency: 1.656259834042764e-5
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.900C>T
  hgvsp: ENST00000389908.3:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.699C>T
  hgvsp: ENST00000378784.4:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.900C>T
  hgvsp: ENST00000378781.3:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.429C>T
  hgvsp: ENST00000409879.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.900C>T
  hgvsp: ENST00000429979.1:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.900C>T
  hgvsp: ENST00000378797.2:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.495C>T
  hgvsp: ENST00000534925.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.900C>T
  hgvsp: ENST00000378787.3:c.900C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.429C>T
  hgvsp: ENST00000322896.6:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1490C>T
  variant of: http://identifiers.org/hgnc/16319
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys300Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

13-46937282-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937282
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937282
    reference: chr 13
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.893G>A
  hgvsp: ENSP00000374558.3:p.Cys298Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.893G>A
  hgvsp: ENSP00000396935.1:p.Cys298Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.422G>A
  hgvsp: ENSP00000386578.2:p.Cys141Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.422G>A
  hgvsp: ENSP00000315633.6:p.Cys141Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*33G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.893G>A
  hgvsp: ENSP00000368064.3:p.Cys298Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.893G>A
  hgvsp: ENSP00000368057.3:p.Cys298Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.488G>A
  hgvsp: ENSP00000437501.1:p.Cys163Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1483G>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.893G>A
  hgvsp: ENSP00000368074.2:p.Cys298Tyr
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.692G>A
  hgvsp: ENSP00000368061.4:p.Cys231Tyr
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys298Tyr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

13-46937293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937293
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937293
    reference: chr 13
allele count: 2
allele frequency: 1.653904040487571e-5
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.411G>A
  hgvsp: ENST00000409879.2:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.681G>A
  hgvsp: ENST00000378784.4:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.411G>A
  hgvsp: ENST00000322896.6:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.882G>A
  hgvsp: ENST00000378787.3:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.477G>A
  hgvsp: ENST00000534925.1:c.477G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.882G>A
  hgvsp: ENST00000378781.3:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.882G>A
  hgvsp: ENST00000429979.1:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.882G>A
  hgvsp: ENST00000378797.2:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*22G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1472G>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.882G>A
  hgvsp: ENST00000389908.3:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val294Val
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

13-46937294-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937294
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937294
    reference: chr 13
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.881T>C
  hgvsp: ENSP00000368074.2:p.Val294Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*21T>C
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.881T>C
  hgvsp: ENSP00000396935.1:p.Val294Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.881T>C
  hgvsp: ENSP00000368064.3:p.Val294Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.881T>C
  hgvsp: ENSP00000374558.3:p.Val294Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.410T>C
  hgvsp: ENSP00000315633.6:p.Val137Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.476T>C
  hgvsp: ENSP00000437501.1:p.Val159Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.881T>C
  hgvsp: ENSP00000368057.3:p.Val294Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.680T>C
  hgvsp: ENSP00000368061.4:p.Val227Ala
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1471T>C
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.410T>C
  hgvsp: ENSP00000386578.2:p.Val137Ala
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val294Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum

13-46937300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937300
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937300
    reference: chr 13
allele count: 2
allele frequency: 1.653986106516705e-5
allele num: 120920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.470A>G
  hgvsp: ENSP00000437501.1:p.His157Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.404A>G
  hgvsp: ENSP00000386578.2:p.His135Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.875A>G
  hgvsp: ENSP00000368064.3:p.His292Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*15A>G
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.875A>G
  hgvsp: ENSP00000368057.3:p.His292Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.674A>G
  hgvsp: ENSP00000368061.4:p.His225Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.875A>G
  hgvsp: ENSP00000374558.3:p.His292Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.875A>G
  hgvsp: ENSP00000396935.1:p.His292Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.404A>G
  hgvsp: ENSP00000315633.6:p.His135Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.875A>G
  hgvsp: ENSP00000368074.2:p.His292Arg
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1465A>G
  variant of: http://identifiers.org/hgnc/16319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16912
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His292Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

13-46937302-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937302
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937302
    reference: chr 13
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.873C>A
  hgvsp: ENSP00000368064.3:p.Tyr291Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.672C>A
  hgvsp: ENSP00000368061.4:p.Tyr224Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.873C>A
  hgvsp: ENSP00000368057.3:p.Tyr291Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.873C>A
  hgvsp: ENSP00000396935.1:p.Tyr291Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.402C>A
  hgvsp: ENSP00000315633.6:p.Tyr134Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1463C>A
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.873C>A
  hgvsp: ENSP00000374558.3:p.Tyr291Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.402C>A
  hgvsp: ENSP00000386578.2:p.Tyr134Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*13C>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.873C>A
  hgvsp: ENSP00000368074.2:p.Tyr291Ter
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.468C>A
  hgvsp: ENSP00000437501.1:p.Tyr156Ter
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr291Ter
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

13-46937309-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937309
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937309
    reference: chr 13
allele count: 4
allele frequency: 3.308683640213741e-5
allele num: 120894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.395G>A
  hgvsp: ENSP00000315633.6:p.Arg132His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.665G>A
  hgvsp: ENSP00000368061.4:p.Arg222His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.866G>A
  hgvsp: ENSP00000368074.2:p.Arg289His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.866G>A
  hgvsp: ENSP00000396935.1:p.Arg289His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.866G>A
  hgvsp: ENSP00000368064.3:p.Arg289His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.866G>A
  hgvsp: ENSP00000368057.3:p.Arg289His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.395G>A
  hgvsp: ENSP00000386578.2:p.Arg132His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.866G>A
  hgvsp: ENSP00000374558.3:p.Arg289His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.461G>A
  hgvsp: ENSP00000437501.1:p.Arg154His
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*6G>A
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1456G>A
  variant of: http://identifiers.org/hgnc/16319
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg289His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

13-46937310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46937310
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 46937310
    reference: chr 13
allele count: 3
allele frequency: 2.481676951838923e-5
allele num: 120886
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000241353
  ensembl transcript: ENST00000535073
  gene symbol: PPP1R2P4
  hgvsc: ENST00000535073.1:n.1455C>T
  variant of: http://identifiers.org/hgnc/16319
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000412507
  ensembl transcript: ENST00000441284
  gene symbol: KIAA0226L
  hgvsc: ENST00000441284.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368064
  ensembl transcript: ENST00000378787
  gene symbol: KIAA0226L
  hgvsc: ENST00000378787.3:c.865C>T
  hgvsp: ENSP00000368064.3:p.Arg289Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000315633
  ensembl transcript: ENST00000322896
  gene symbol: KIAA0226L
  hgvsc: ENST00000322896.6:c.394C>T
  hgvsp: ENSP00000315633.6:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000374558
  ensembl transcript: ENST00000389908
  gene symbol: KIAA0226L
  hgvsc: ENST00000389908.3:c.865C>T
  hgvsp: ENSP00000374558.3:p.Arg289Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368057
  ensembl transcript: ENST00000378781
  gene symbol: KIAA0226L
  hgvsc: ENST00000378781.3:c.865C>T
  hgvsp: ENSP00000368057.3:p.Arg289Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368074
  ensembl transcript: ENST00000378797
  gene symbol: KIAA0226L
  hgvsc: ENST00000378797.2:c.865C>T
  hgvsp: ENSP00000368074.2:p.Arg289Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000386578
  ensembl transcript: ENST00000409879
  gene symbol: KIAA0226L
  hgvsc: ENST00000409879.2:c.394C>T
  hgvsp: ENSP00000386578.2:p.Arg132Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000437501
  ensembl transcript: ENST00000534925
  gene symbol: KIAA0226L
  hgvsc: ENST00000534925.1:c.460C>T
  hgvsp: ENSP00000437501.1:p.Arg154Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000396935
  ensembl transcript: ENST00000429979
  gene symbol: KIAA0226L
  hgvsc: ENST00000429979.1:c.865C>T
  hgvsp: ENSP00000396935.1:p.Arg289Cys
  variant of: http://identifiers.org/hgnc/20420
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000102445
  ensembl protein: ENSP00000368061
  ensembl transcript: ENST00000378784
  gene symbol: KIAA0226L
  hgvsc: ENST00000378784.4:c.664C>T
  hgvsp: ENSP00000368061.4:p.Arg222Cys
  variant of: http://identifiers.org/hgnc/20420
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg289Cys
num of homozygotes: 1
reference allele: G

GenotypeDepth
all individuals: 87
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 395
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5861
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1338
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1214
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 171
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46245
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.183527083848628e-5
allele num: 16172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65978
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 1.521026e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

FS
type: SiteQuality
SIO_000300: 8.193e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.005e1

GenotypeDepth
all individuals: 162
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 46267
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 624
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5846
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.910068426197458e-4
allele num: 10230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.637130801687763e-4
allele num: 11376
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.329916123019571e-4
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.547108039287013e-5
allele num: 65976
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.524295e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

QD
type: SiteQuality
SIO_000300: 1.2e1

FS
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.24e-1

GenotypeDepth
all individuals: 527
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 357
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46530
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 306
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 265
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 304
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5866
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65996
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.775171065493646e-5
allele num: 10230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.835e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

MQ
type: SiteQuality
SIO_000300: 6.036e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

DP
type: SiteQuality
SIO_000300: 1.525713e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.739e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
SIO_000300: 7.19e0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1332
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46906
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.782821365681862e-5
allele num: 10222
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 9.65e0

DP
type: SiteQuality
SIO_000300: 1.528636e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.021e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e0

GenotypeDepth
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1535
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5796
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65796
num of homozygotes: 0

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

South Asian
type: Population
allele count: 33
allele frequency: 2.055050442147217e-3
allele num: 16058
num of homozygotes: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e0

DP
type: SiteQuality
SIO_000300: 1.526255e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.243e1

MQRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

GenotypeDepth
all individuals: 48
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1649
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46507
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 198
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 239
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5789
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.846426043878273e-5
allele num: 11304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 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: 16044
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

FS
type: SiteQuality
SIO_000300: 8.098000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

DP
type: SiteQuality
SIO_000300: 1.524743e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.5e0
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: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11288
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.522394421946838e-5
allele num: 65686
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
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SIO_000300: -7.16e-1

DP
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SIO_000300: 1.52374e6

BaseQRankSum
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SIO_000300: -1.57e0

VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 1.0e-4

ReadPosRankSum
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SIO_000300: -7.77e-1

FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.12e1

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

Other
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allele frequency: 0.0e0
allele num: 880
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65350
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11214
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African
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allele frequency: 0.0e0
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East Asian
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allele num: 8510
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VQSLOD
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SIO_000300: 7.38e-1

FS
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SIO_000300: 1.192e0

BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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SIO_000300: -6.97e-1

ClippingRankSum
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SIO_000300: 1.03e-1

QD
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SIO_000300: 1.334e1

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

Latino
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allele frequency: 9.043226623259179e-5
allele num: 11058
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64676
num of homozygotes: 0

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

African
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allele 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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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DP
type: SiteQuality
SIO_000300: 1.498956e6

ReadPosRankSum
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SIO_000300: 2.31e-1

FS
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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SIO_000300: 5.943e1

MQRankSum
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SIO_000300: 1.15e0

QD
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SIO_000300: 1.669e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.204238921001927e-4
allele num: 8304
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63844
num of homozygotes: 0

South Asian
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DP
type: SiteQuality
SIO_000300: 1.479749e6

InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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MQRankSum
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QD
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SIO_000300: 1.386e1

VQSLOD
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SIO_000300: 2.96e0

BaseQRankSum
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SIO_000300: 9.44e-1

ReadPosRankSum
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SIO_000300: 1.89e-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
all individuals: 242
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.131949011870087e-5
allele num: 63858
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
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MQRankSum
type: SiteQuality
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VQSLOD
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 1.18e0

InbreedingCoeff
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FS
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SIO_000300: 6.058e0

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: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele num: 8196
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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QD
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MQ
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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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: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10466
num of homozygotes: 0

Other
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East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 6.583278472679394e-5
allele num: 15190
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European (Finnish)
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African
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European (Non-Finnish)
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MQ
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 3

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

GenotypeQuality
all individuals: 489
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 221
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.097614517781355e-3
allele num: 13666
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.36986301369863e-3
allele num: 730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.855907353104933e-5
allele num: 53882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.224749e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

FS
type: SiteQuality
SIO_000300: 1.126e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18876
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 5.75e1
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GenotypeQuality
all individuals: 183
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3299
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 954
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 7.5e0
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GenotypeQuality
all individuals: 49
bin: 2.5e0
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GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 26693
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

African
type: Population
allele count: 28
allele frequency: 3.222836095764273e-3
allele num: 8688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.796e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

DP
type: SiteQuality
SIO_000300: 1.222332e6

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeDepth
all individuals: 517
bin: 4.25e1
variant carriers: 10

GenotypeQuality
all individuals: 19806
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1008
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variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
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variant carriers: 1

GenotypeQuality
all individuals: 240
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
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variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 741
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 269
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variant carriers: 0

GenotypeQuality
all individuals: 223
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variant carriers: 2

GenotypeQuality
all individuals: 1221
bin: 3.75e1
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GenotypeQuality
all individuals: 801
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variant carriers: 2

GenotypeQuality
all individuals: 311
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3132
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 25018
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1845
bin: 9.75e1
variant carriers: 372

European (Non-Finnish)
type: Population
allele count: 157
allele frequency: 2.962823174183808e-3
allele num: 52990
num of homozygotes: 1

South Asian
type: Population
allele count: 164
allele frequency: 1.213915618060696e-2
allele num: 13510
num of homozygotes: 3

East Asian
type: Population
allele count: 5
allele frequency: 7.352941176470588e-4
allele num: 6800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.102535832414553e-3
allele num: 5442
num of homozygotes: 0

Latino
type: Population
allele count: 40
allele frequency: 5.125576627370579e-3
allele num: 7804
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 8.264462809917356e-3
allele num: 726
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.986492780624127e-4
allele num: 8588
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.207586e6

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-2

QD
type: SiteQuality
SIO_000300: 1.225e1

GenotypeDepth
all individuals: 15142
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3093
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20061
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
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variant carriers: 0

GenotypeQuality
all individuals: 429
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variant carriers: 0

GenotypeQuality
all individuals: 1695
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variant carriers: 0

GenotypeQuality
all individuals: 458
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variant carriers: 0

GenotypeQuality
all individuals: 88
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GenotypeQuality
all individuals: 1183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
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GenotypeQuality
all individuals: 688
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
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variant carriers: 0

GenotypeQuality
all individuals: 25804
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.230151650312221e-4
allele num: 13452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.89738919247116e-5
allele num: 52704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6748
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

FS
type: SiteQuality
SIO_000300: 1.808e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.21e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

DP
type: SiteQuality
SIO_000300: 1.197256e6

GenotypeDepth
all individuals: 359
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
all individuals: 346
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variant carriers: 0

GenotypeQuality
all individuals: 2850
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variant carriers: 0

GenotypeQuality
all individuals: 448
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variant carriers: 0

GenotypeQuality
all individuals: 305
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variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
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variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 23900
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variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 734
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variant carriers: 0

GenotypeQuality
all individuals: 451
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GenotypeQuality
all individuals: 1492
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 823
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
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variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22310
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.769854519437157e-4
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7298
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51114
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.150653e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.374e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

GenotypeDepth
all individuals: 10189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
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variant carriers: 0

GenotypeQuality
all individuals: 1166
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variant carriers: 0

GenotypeQuality
all individuals: 566
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variant carriers: 0

GenotypeQuality
all individuals: 366
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variant carriers: 0

GenotypeQuality
all individuals: 1489
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variant carriers: 2

GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 303
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GenotypeQuality
all individuals: 445
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GenotypeQuality
all individuals: 441
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GenotypeQuality
all individuals: 633
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GenotypeQuality
all individuals: 725
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GenotypeQuality
all individuals: 2511
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variant carriers: 0

GenotypeQuality
all individuals: 473
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GenotypeQuality
all individuals: 1800
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variant carriers: 0

GenotypeQuality
all individuals: 1844
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variant carriers: 0

GenotypeQuality
all individuals: 20222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
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variant carriers: 0

GenotypeQuality
all individuals: 25879
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12738
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.182525408841859e-5
allele num: 47818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.453e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 1.075711e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeDepth
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 251
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variant carriers: 0

GenotypeQuality
all individuals: 526
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GenotypeQuality
all individuals: 1146
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GenotypeQuality
all individuals: 1858
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variant carriers: 0

GenotypeQuality
all individuals: 411
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GenotypeQuality
all individuals: 1900
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variant carriers: 0

GenotypeQuality
all individuals: 29560
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GenotypeQuality
all individuals: 16023
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GenotypeQuality
all individuals: 609
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GenotypeQuality
all individuals: 428
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GenotypeQuality
all individuals: 217
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GenotypeQuality
all individuals: 544
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GenotypeQuality
all individuals: 2151
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GenotypeQuality
all individuals: 1152
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 1488
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GenotypeQuality
all individuals: 673
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GenotypeQuality
all individuals: 728
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.27541640120142e-5
allele num: 43948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
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SIO_000300: 4.04e0

QD
type: SiteQuality
SIO_000300: 2.128e1

VQSLOD
type: SiteQuality
SIO_000300: -1.167e0

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

FS
type: SiteQuality
SIO_000300: 4.122e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.399e0

DP
type: SiteQuality
SIO_000300: 9.95359e5

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1885
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16421
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GenotypeQuality
all individuals: 606
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GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 29693
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GenotypeQuality
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GenotypeQuality
all individuals: 587
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GenotypeQuality
all individuals: 669
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GenotypeQuality
all individuals: 492
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GenotypeQuality
all individuals: 1121
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GenotypeQuality
all individuals: 300
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1490
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 628
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.459016393442623e-4
allele num: 12200
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 9.94996e5

FS
type: SiteQuality
SIO_000300: 1.1922e1

QD
type: SiteQuality
SIO_000300: 1.29e1

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: 1

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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num of homozygotes: 0

East Asian
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South Asian
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Latino
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African
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Other
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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SIO_000300: 5.78e-1

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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Other
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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 frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.306805074971165e-5
allele num: 43350
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Latino
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European (Finnish)
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num of homozygotes: 0

South Asian
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 660
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variant carriers: 0

Latino
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allele frequency: 1.814882032667876e-4
allele num: 5510
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4600
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.543881963876876e-5
allele num: 39310
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

African
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allele frequency: 2.899391127863149e-3
allele num: 6898
num of homozygotes: 0

Latino
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allele frequency: 2.051702913418137e-4
allele num: 4874
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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MQ
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FS
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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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.654773282361686e-5
allele num: 37668
num of homozygotes: 0

Latino
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allele num: 4550
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

Other
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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East Asian
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South Asian
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BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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QD
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FS
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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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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

South Asian
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allele frequency: 9.208103130755064e-5
allele num: 10860
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

African
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.29385e5

VQSLOD
type: SiteQuality
SIO_000300: -3.508e0

FS
type: SiteQuality
SIO_000300: 1.384e0

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.304e0

MQRankSum
type: SiteQuality
SIO_000300: 8.86e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-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
all individuals: 10742
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 4.62962962962963e-4
allele num: 2160
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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 14662
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.67608e5

VQSLOD
type: SiteQuality
SIO_000300: -1.084e0

BaseQRankSum
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SIO_000300: 2.45e0

QD
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SIO_000300: 1.148e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.83e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.098e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.525762780359669e-5
allele num: 39592
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: 568
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.009e0

VQSLOD
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SIO_000300: -2.317e0

DP
type: SiteQuality
SIO_000300: 1.035011e6

QD
type: SiteQuality
SIO_000300: 2.52e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7034
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.950078003120125e-4
allele num: 5128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.008776354282256e-4
allele num: 39652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5194
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e-1

QD
type: SiteQuality
SIO_000300: 1.375e1

DP
type: SiteQuality
SIO_000300: 1.043206e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

FS
type: SiteQuality
SIO_000300: 8.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-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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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.474145182839329e-5
allele num: 40418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

DP
type: SiteQuality
SIO_000300: 1.071968e6

QD
type: SiteQuality
SIO_000300: 1.022e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.371916508538899e-5
allele num: 42160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4760
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

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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 2.055076037813399e-4
allele num: 4866
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5800
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43998
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.122e0

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

European (Non-Finnish)
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allele count: 11
allele frequency: 2.480382429872824e-4
allele num: 44348
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

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

African
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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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allele num: 606
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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

African
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allele count: 1
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allele num: 7664
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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SIO_000300: 9.249000000000001e0

MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -2.09e-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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Other
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num of homozygotes: 0

South Asian
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allele frequency: 8.592541673827119e-5
allele num: 11638
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Latino
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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QD
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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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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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 2.128837229105463e-5
allele num: 46974
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Other
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VQSLOD
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QD
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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MQ
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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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variant carriers: 0

South Asian
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allele frequency: 8.401949252226517e-5
allele num: 11902
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47390
num of homozygotes: 0

Latino
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allele num: 6968
num of homozygotes: 0

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

East Asian
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European (Finnish)
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allele num: 5092
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Latino
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African
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South Asian
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European (Non-Finnish)
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Other
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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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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European (Finnish)
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African
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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Other
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DP
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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African
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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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 8.404773911581779e-5
allele num: 11898
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: -9.06e-1

BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.4e-3

MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.210147e6

QD
type: SiteQuality
SIO_000300: 1.71e1

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: 7.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 6696
num of homozygotes: 0

South Asian
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allele frequency: 1.680389850445303e-4
allele num: 11902
num of homozygotes: 0

East 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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African
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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SIO_000300: 1.2444e1

DP
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ClippingRankSum
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SIO_000300: 2.13e-1

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

African
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allele frequency: 0.0e0
allele num: 7714
num of homozygotes: 0

Latino
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allele frequency: 1.602564102564103e-4
allele num: 6240
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.145071e6

VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: -3.5e-3

FS
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SIO_000300: 7.162e0

MQ
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SIO_000300: 5.915e1

MQRankSum
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SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

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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bin: 3.75e1
variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 2.070393374741201e-4
allele num: 4830
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43766
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.109781e6

FS
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ReadPosRankSum
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MQ
type: SiteQuality
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MQRankSum
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SIO_000300: -6.13e-1

QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

BaseQRankSum
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SIO_000300: -3.063e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele frequency: 4.020369874028411e-4
allele num: 7462
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 42966
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
type: Population
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allele num: 608
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FS
type: SiteQuality
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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num of homozygotes: 0

African
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allele frequency: 1.457301078402798e-4
allele num: 6862
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 850
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East Asian
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allele count: 0
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South Asian
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allele frequency: 5.346776657500764e-4
allele num: 13092
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

VQSLOD
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BaseQRankSum
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QD
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SIO_000300: 1.077e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.290629e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

East Asian
type: Population
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
allele num: 13168
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63008
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.213193292795283e-5
allele num: 10854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.300053e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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QD
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SIO_000300: 6.8e0

InbreedingCoeff
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SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.05e-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

East Asian
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allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.155768745266347e-5
allele num: 63376
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
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SIO_000300: -8.0e-4

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 3.12e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

DP
type: SiteQuality
SIO_000300: 1.32757e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.078817733990148e-4
allele num: 6496
num of homozygotes: 0

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

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

East Asian
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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: 9886
num of homozygotes: 0

European (Non-Finnish)
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allele count: 19
allele frequency: 2.966988350666791e-4
allele num: 64038
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.205e0

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

VQSLOD
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SIO_000300: 4.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.414673e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.952551477170994e-5
allele num: 11170
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.145919679862798e-5
allele num: 13994
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.993e-1

MQ
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SIO_000300: 6.0e1

FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.443521e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 4

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64886
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14418
num of homozygotes: 0

African
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allele count: 4
allele frequency: 4.004805766920304e-4
allele num: 9988
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.103e1

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

GenotypeDepth
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variant carriers: 0

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: 65570
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 886
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 9.897070467141726e-5
allele num: 10104
num of homozygotes: 0

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

Latino
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QD
type: SiteQuality
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ClippingRankSum
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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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

Latino
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allele count: 2
allele frequency: 1.740947075208914e-4
allele num: 11488
num of homozygotes: 0

Other
type: Population
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10222
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

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

FS
type: SiteQuality
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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QD
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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: 4

GenotypeQuality
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bin: 7.75e1
variant carriers: 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 frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

Other
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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: 4
allele frequency: 2.480466327669602e-4
allele num: 16126
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.558662e6

FS
type: SiteQuality
SIO_000300: 3.381e0

ClippingRankSum
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SIO_000300: -8.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.259e1

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: 9.75e1
variant carriers: 1

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

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

African
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allele count: 1
allele frequency: 9.699321047526673e-5
allele num: 10310
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -2.14e-1

MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.958e1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 2.585e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

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

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
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num of homozygotes: 0

European (Finnish)
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allele count: 4
allele frequency: 6.05143721633888e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.024096385542168e-5
allele num: 66400
num of homozygotes: 0

African
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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 frequency: 8.101851851851852e-4
allele num: 8640
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.585e0

VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 1.0e-4

MQRankSum
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MQ
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SIO_000300: 5.958e1

BaseQRankSum
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DP
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SIO_000300: 1.56539e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.011413256241154e-5
allele num: 66414
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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Other
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ReadPosRankSum
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SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 5.8e-1

ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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SIO_000300: 6.24e-1

BaseQRankSum
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SIO_000300: 2.51e0

MQ
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SIO_000300: 5.874e1

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

South Asian
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allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

European (Non-Finnish)
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DP
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SIO_000300: 1.567746e6

MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 1.0e-4

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele num: 66480
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele num: 66478
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 1.568999e6

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 9.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeDepth
all individuals: 586
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 779
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5558
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.568751e6

VQSLOD
type: SiteQuality
SIO_000300: -1.992e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.897e0

QD
type: SiteQuality
SIO_000300: 1.162e1

GenotypeDepth
all individuals: 932
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 48209
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 352
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 334
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5560
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.217878455730118e-4
allele num: 16422
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.093e0

VQSLOD
type: SiteQuality
SIO_000300: -9.197e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.26e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.568684e6

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

GenotypeDepth
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5563
bin: 6.75e1
variant carriers: 0