22-30681827-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681827
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681827
    reference: chr 22
allele count: 7
allele frequency: 1.016702977487291e-4
allele num: 68850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.801C>A
  hgvsp: ENSP00000385868.3:p.His267Gln
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-404C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1368C>A
  hgvsp: ENSP00000401535.1:p.His456Gln
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*394C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*655C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.915C>A
  hgvsp: ENSP00000384183.3:p.His305Gln
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*631C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*785C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*701C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*715C>A
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10651
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20076
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His456Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

22-30681830-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681830
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681830
    reference: chr 22
allele count: 3
allele frequency: 3.904623073719284e-5
allele num: 76832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.798C>G
  hgvsp: ENSP00000385868.3:p.Asp266Glu
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-407C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*652C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*782C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.912C>G
  hgvsp: ENSP00000384183.3:p.Asp304Glu
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*712C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1365C>G
  hgvsp: ENSP00000401535.1:p.Asp455Glu
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*391C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*698C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*628C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19750
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp455Glu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

22-30681843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681843
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681843
    reference: chr 22
allele count: 1
allele frequency: 1.264990133076962e-5
allele num: 79052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.785C>T
  hgvsp: ENSP00000385868.3:p.Thr262Ile
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1352C>T
  hgvsp: ENSP00000401535.1:p.Thr451Ile
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.899C>T
  hgvsp: ENSP00000384183.3:p.Thr300Ile
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*639C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*769C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*615C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*699C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*378C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-420C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*685C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18633
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr451Ile
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

22-30681845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681845
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681845
    reference: chr 22
allele count: 1
allele frequency: 1.253855605988414e-5
allele num: 79754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*376C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.897C>T
  hgvsp: ENST00000407689.3:c.897C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*613C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*767C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*637C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.783C>T
  hgvsp: ENST00000404953.3:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*683C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1350C>T
  hgvsp: ENST00000434291.1:c.1350C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-422C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*697C>T
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20487
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser450Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

22-30681846-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681846
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681846
    reference: chr 22
allele count: 1
allele frequency: 1.244740969404267e-5
allele num: 80338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1349G>A
  hgvsp: ENSP00000401535.1:p.Ser450Asn
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.896G>A
  hgvsp: ENSP00000384183.3:p.Ser299Asn
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.782G>A
  hgvsp: ENSP00000385868.3:p.Ser261Asn
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*682G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*612G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*375G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*636G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*766G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-423G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*696G>A
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser450Asn
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

22-30681850-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681850
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681850
    reference: chr 22
allele count: 1
allele frequency: 1.219482451647521e-5
allele num: 82002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*692A>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*371A>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-427A>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1345A>T
  hgvsp: ENSP00000401535.1:p.Ile449Phe
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*608A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.892A>T
  hgvsp: ENSP00000384183.3:p.Ile298Phe
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*632A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*678A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.778A>T
  hgvsp: ENSP00000385868.3:p.Ile260Phe
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*762A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile449Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

22-30681860-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681860
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681860
    reference: chr 22
allele count: 1
allele frequency: 1.187592038382975e-5
allele num: 84204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*598T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.768T>C
  hgvsp: ENST00000404953.3:c.768T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1335T>C
  hgvsp: ENST00000434291.1:c.1335T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*668T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*361T>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.882T>C
  hgvsp: ENST00000407689.3:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*752T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-437T>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*682T>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*622T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser445Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

22-30681871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681871
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681871
    reference: chr 22
allele count: 1
allele frequency: 1.198552149004003e-5
allele num: 83434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*657G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*611G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*350G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*671G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*741G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.871G>A
  hgvsp: ENSP00000384183.3:p.Ala291Thr
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.757G>A
  hgvsp: ENSP00000385868.3:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1324G>A
  hgvsp: ENSP00000401535.1:p.Ala442Thr
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-448G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*587G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20111
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala442Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

22-30681872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681872
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681872
    reference: chr 22
allele count: 6
allele frequency: 7.231703789412785e-5
allele num: 82968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*656C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*586C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*610C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.756C>T
  hgvsp: ENST00000404953.3:c.756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.870C>T
  hgvsp: ENST00000407689.3:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-449C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*740C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*349C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*670C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1323C>T
  hgvsp: ENST00000434291.1:c.1323C>T(p.%3D)
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19397
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala441Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/22-30681875-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681875
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681875
    reference: chr 22
allele count: 1
allele frequency: 1.198897014746433e-5
allele num: 83410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1320T>G
  hgvsp: ENST00000434291.1:c.1320T>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.753T>G
  hgvsp: ENST00000404953.3:c.753T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*346T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*737T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*607T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-452T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*653T>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*667T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.867T>G
  hgvsp: ENST00000407689.3:c.867T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*583T>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17357
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala440Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-30681878-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681878
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681878
    reference: chr 22
allele count: 1
allele frequency: 1.204064923180658e-5
allele num: 83052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.750G>C
  hgvsp: ENST00000404953.3:c.750G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*664G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*343G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*650G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*580G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1317G>C
  hgvsp: ENST00000434291.1:c.1317G>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-455G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*604G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*734G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.864G>C
  hgvsp: ENST00000407689.3:c.864G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu439Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

22-30681883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681883
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681883
    reference: chr 22
allele count: 1
allele frequency: 1.215480357837417e-5
allele num: 82272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-460C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*599C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*575C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*645C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*729C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*338C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.859C>T
  hgvsp: ENSP00000384183.3:p.Pro287Ser
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.745C>T
  hgvsp: ENSP00000385868.3:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1312C>T
  hgvsp: ENSP00000401535.1:p.Pro438Ser
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*659C>T
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro438Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

22-30681885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681885
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681885
    reference: chr 22
allele count: 3
allele frequency: 3.668737465146994e-5
allele num: 81772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*597G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.743G>A
  hgvsp: ENSP00000385868.3:p.Gly248Asp
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1310G>A
  hgvsp: ENSP00000401535.1:p.Gly437Asp
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*643G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.857G>A
  hgvsp: ENSP00000384183.3:p.Gly286Asp
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*336G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*727G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-462G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*573G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*657G>A
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17636
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly437Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

22-30681906-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681906
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681906
    reference: chr 22
allele count: 1
allele frequency: 1.346293653571717e-5
allele num: 74278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*706G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*622G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1289G>C
  hgvsp: ENSP00000401535.1:p.Gly430Ala
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.836G>C
  hgvsp: ENSP00000384183.3:p.Gly279Ala
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*552G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*576G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-483G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*315G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.722G>C
  hgvsp: ENSP00000385868.3:p.Gly241Ala
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*636G>C
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly430Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-30681911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681911
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681911
    reference: chr 22
allele count: 1
allele frequency: 1.365113167881617e-5
allele num: 73254
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1284A>G
  hgvsp: ENST00000434291.1:c.1284A>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*310A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-488A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*547A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*701A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.831A>G
  hgvsp: ENST00000407689.3:c.831A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.717A>G
  hgvsp: ENST00000404953.3:c.717A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*631A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*571A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*617A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu428Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/22-30681919-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681919
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681919
    reference: chr 22
allele count: 1
allele frequency: 1.446508129375687e-5
allele num: 69132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-4T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*567-4T>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1280-4T>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.827-4T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*627-4T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.713-4T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*613-4T>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*543-4T>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*697-4T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-496T>G
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17524
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1280-4T>G
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

22-30681920-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681920
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681920
    reference: chr 22
allele count: 2
allele frequency: 2.900400255235223e-5
allele num: 68956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*567-5C>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.827-5C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-497C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*613-5C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*543-5C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-5C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*627-5C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*697-5C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.713-5C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1280-5C>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1280-5C>A
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

22-30681921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681921
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681921
    reference: chr 22
allele count: 1
allele frequency: 1.449107349872479e-5
allele num: 69008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*543-6C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*567-6C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.827-6C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*697-6C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-6C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*627-6C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-498C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.713-6C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1280-6C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*613-6C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17510
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1280-6C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

22-30681922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681922
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681922
    reference: chr 22
allele count: 1
allele frequency: 1.449359383152646e-5
allele num: 68996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.713-7C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*627-7C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*697-7C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1280-7C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-7C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*567-7C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*543-7C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-499C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*613-7C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.827-7C>T
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1280-7C>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

22-30681924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681924
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681924
    reference: chr 22
allele count: 1
allele frequency: 1.496468334730037e-5
allele num: 66824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*543-9C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-9C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1280-9C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-501C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.827-9C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*627-9C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*613-9C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.713-9C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*567-9C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*697-9C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-30681927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681927
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681927
    reference: chr 22
allele count: 4
allele frequency: 6.039559112184811e-5
allele num: 66230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*567-12C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.827-12C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1280-12C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-504C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*543-12C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.713-12C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-12C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*613-12C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*697-12C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*627-12C>T
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17632
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

22-30681950-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681950
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681950
    reference: chr 22
allele count: 1
allele frequency: 1.891145656038428e-5
allele num: 52878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.713-35A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*567-35A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*613-35A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.827-35A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*543-35A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-35A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-527A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*627-35A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*697-35A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1280-35A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14957
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

22-30681953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681953
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681953
    reference: chr 22
allele count: 2
allele frequency: 3.893322951138797e-5
allele num: 51370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*627-38G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1280-38G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.713-38G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-530G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-38G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*567-38G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*543-38G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.827-38G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*613-38G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*697-38G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14495
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24863
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

22-30681954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681954
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681954
    reference: chr 22
allele count: 2
allele frequency: 3.916960438699569e-5
allele num: 51060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-39C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*697-39C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*567-39C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*627-39C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-531C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*543-39C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.713-39C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*613-39C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1280-39C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.827-39C>T
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24985
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

22-30681962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681962
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681962
    reference: chr 22
allele count: 2
allele frequency: 4.110321016071355e-5
allele num: 48658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.712+43G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*612+43G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.826+43G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*626+43G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*696+43G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*542+43G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-47G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-539G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1279+43G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*566+43G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13953
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

22-30681966-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681966
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681966
    reference: chr 22
allele count: 1
allele frequency: 2.049264314111234e-5
allele num: 48798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*542+39C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.712+39C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*612+39C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-543C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*566+39C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.826+39C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*626+39C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-51C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1279+39C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*696+39C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3802
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

22-30681973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681973
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681973
    reference: chr 22
allele count: 3
allele frequency: 6.2895718898067e-5
allele num: 47698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*612+32G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*696+32G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-58G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*566+32G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.712+32G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-550G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*626+32G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*542+32G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1279+32G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.826+32G>A
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4961
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

22-30681977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681977
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681977
    reference: chr 22
allele count: 46
allele frequency: 9.500206526228831e-4
allele num: 48420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*542+28C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-62C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-554C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*612+28C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*626+28C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1279+28C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*566+28C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.712+28C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.826+28C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*696+28C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27119
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14321
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 6.25e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

22-30681978-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681978
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681978
    reference: chr 22
allele count: 1
allele frequency: 2.075205445339089e-5
allele num: 48188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*626+27G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-555G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*566+27G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.826+27G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-63G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*542+27G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*696+27G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1279+27G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.712+27G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*612+27G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14363
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

22-30681979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681979
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681979
    reference: chr 22
allele count: 1
allele frequency: 2.041733022989914e-5
allele num: 48978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*696+26G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.712+26G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1279+26G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*542+26G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-64G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-556G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.826+26G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*612+26G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*566+26G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*626+26G>A
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

22-30681982-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681982
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681982
    reference: chr 22
allele count: 1
allele frequency: 2.008758185689607e-5
allele num: 49782
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1279+23G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-559G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*542+23G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*626+23G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-67G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*696+23G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.712+23G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*612+23G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.826+23G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*566+23G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14298
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

22-30681989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681989
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681989
    reference: chr 22
allele count: 194
allele frequency: 3.813492687529486e-3
allele num: 50872
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.826+16G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-566G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*612+16G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*626+16G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*696+16G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.712+16G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*542+16G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-74G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1279+16G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*566+16G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 2.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 28324
  bin: 7.5e0
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 1.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13732
  bin: 1.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 6040
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

22-30681990-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30681990
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30681990
    reference: chr 22
allele count: 26
allele frequency: 5.048543689320388e-4
allele num: 51500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*566+15C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.826+15C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.712+15C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-567C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*542+15C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1279+15C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*612+15C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-75C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*626+15C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*696+15C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28285
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 13453
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5744
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/22-30682003-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682003
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682002
    reference: chr 22
allele count: 1
allele frequency: 1.723543605653223e-5
allele num: 58020
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.826+1delG
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*696+1delG
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*542+1delG
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*626+1delG
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*566+1delG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-89delG
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1279+1delG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-581delG
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*612+1delG
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.712+1delG
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1279+1delG
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: AC
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

22-30682006-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682006
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682006
    reference: chr 22
allele count: 139
allele frequency: 2.314891916197582e-3
allele num: 60046
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.825T>C
  hgvsp: ENST00000407689.3:c.825T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*565T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1278T>C
  hgvsp: ENST00000434291.1:c.1278T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*611T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*541T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.711T>C
  hgvsp: ENST00000404953.3:c.711T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-91T>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*695T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*625T>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-583T>C
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 1.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13235
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26883
  bin: 7.5e0
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 6.75e1
  variant carriers: 3
hgvs: c.1278T>C
num of homozygotes: 1
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

22-30682026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682026
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682026
    reference: chr 22
allele count: 1
allele frequency: 1.406153326958772e-5
allele num: 71116
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.805G>A
  hgvsp: ENSP00000384183.3:p.Gly269Ser
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.691G>A
  hgvsp: ENSP00000385868.3:p.Gly231Ser
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1258G>A
  hgvsp: ENSP00000401535.1:p.Gly420Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-603G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*591G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*521G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*605G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-111G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*675G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*545G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly269Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

22-30682032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682032
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682032
    reference: chr 22
allele count: 2
allele frequency: 2.685284640171858e-5
allele num: 74480
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1252C>T
  hgvsp: ENSP00000401535.1:p.Arg418Cys
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*539C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.685C>T
  hgvsp: ENSP00000385868.3:p.Arg229Cys
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*669C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*599C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*585C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.799C>T
  hgvsp: ENSP00000384183.3:p.Arg267Cys
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-117C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*515C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-609C>T
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22742
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg267Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

22-30682035-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682035
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682035
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 75748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-120G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-612G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1249G>A
  hgvsp: ENSP00000401535.1:p.Val417Met
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*512G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*666G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*582G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*596G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.796G>A
  hgvsp: ENSP00000384183.3:p.Val266Met
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.682G>A
  hgvsp: ENSP00000385868.3:p.Val228Met
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*536G>A
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20025
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val266Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

22-30682054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682054
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682054
    reference: chr 22
allele count: 1
allele frequency: 1.298128099280837e-5
allele num: 77034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*493G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*517G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*563G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.777G>A
  hgvsp: ENST00000407689.3:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.663G>A
  hgvsp: ENST00000404953.3:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1230G>A
  hgvsp: ENST00000434291.1:c.1230G>A(p.%3D)
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*647G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-139G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-631G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*577G>A
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21876
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser259Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

22-30682055-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682055
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682055
    reference: chr 22
allele count: 4
allele frequency: 5.186452984803693e-5
allele num: 77124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*562C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*492C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*576C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.662C>T
  hgvsp: ENSP00000385868.3:p.Ser221Leu
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-140C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*516C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*646C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.776C>T
  hgvsp: ENSP00000384183.3:p.Ser259Leu
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-632C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1229C>T
  hgvsp: ENSP00000401535.1:p.Ser410Leu
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser259Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

22-30682055-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682055
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682055
    reference: chr 22
allele count: 1
allele frequency: 1.296613246200923e-5
allele num: 77124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*516C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*492C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*646C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.776C>G
  hgvsp: ENSP00000384183.3:p.Ser259Trp
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-632C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1229C>G
  hgvsp: ENSP00000401535.1:p.Ser410Trp
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*576C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*562C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.662C>G
  hgvsp: ENSP00000385868.3:p.Ser221Trp
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-140C>G
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21776
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser259Trp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

22-30682061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682061
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682061
    reference: chr 22
allele count: 1
allele frequency: 1.304427226005061e-5
allele num: 76662
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*510G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*640G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.770G>A
  hgvsp: ENSP00000384183.3:p.Ser257Asn
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*570G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-638G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*556G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*486G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.656G>A
  hgvsp: ENSP00000385868.3:p.Ser219Asn
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1223G>A
  hgvsp: ENSP00000401535.1:p.Ser408Asn
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-146G>A
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser257Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

22-30682095-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682095
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682095
    reference: chr 22
allele count: 1
allele frequency: 1.444710913346239e-5
allele num: 69218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-8C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-672C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*614-8C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-8C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*530-8C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-180C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*544-8C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.744-8C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-8C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*452C>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 1.25e1
  variant carriers: 0
hgvs: c.1197-8C>A
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

22-30682097-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682097
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682097
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 68674
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-10C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-674C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*450C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*614-10C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-10C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-182C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*530-10C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-10C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*544-10C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.744-10C>T
  variant of: http://identifiers.org/hgnc/34423
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19589
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10148
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-30682105-TGATGGGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682105
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682098
    reference: chr 22
allele count: 4
allele frequency: 6.001860576778802e-5
allele num: 66646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*614-25_*614-19delGCCCATC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-25_1197-19delGCCCATC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*544-25_*544-19delGCCCATC
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*435_*441delGCCCATC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*530-25_*530-19delGCCCATC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.744-25_744-19delGCCCATC
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-25_*484-19delGCCCATC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-25_630-19delGCCCATC
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  variant of: http://identifiers.org/hgnc/34423
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16705
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: TGATGGGC
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-30682117-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682117
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682117
    reference: chr 22
allele count: 34
allele frequency: 5.62485524269596e-4
allele num: 60446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-30G>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*430G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-202G>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-30G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-30G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*614-30G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-694G>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*544-30G>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.744-30G>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*530-30G>T
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20629
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16111
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5010
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

22-30682122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682122
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682122
    reference: chr 22
allele count: 1
allele frequency: 1.639129294518752e-5
allele num: 61008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*544-35G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-35G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*425G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-207G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*530-35G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.744-35G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-35G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-35G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-699G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*614-35G>A
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16022
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/22-30682130-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682130
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682130
    reference: chr 22
allele count: 2
allele frequency: 3.447919180774402e-5
allele num: 58006
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.744-43G>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-215G>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-43G>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*544-43G>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-43G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-707G>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*417G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-43G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*530-43G>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*614-43G>T
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14943
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
hgvs: c.*417G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

22-30682131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682131
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682131
    reference: chr 22
allele count: 1
allele frequency: 1.718744628923035e-5
allele num: 58182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-708G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-44G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.744-44G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*530-44G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-44G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*614-44G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-44G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*544-44G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-216G>A
  variant of: http://identifiers.org/hgnc/34423
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 1.25e1
  variant carriers: 0
hgvs: c.*416G>A
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

22-30682134-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682134
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682134
    reference: chr 22
allele count: 1
allele frequency: 1.736472876293672e-5
allele num: 57588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-711C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-47C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*614-47C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-47C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.744-47C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*544-47C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-3C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*530-47C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-47C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-219C>G
  variant of: http://identifiers.org/hgnc/34423
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
hgvs: c.*416-3C>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

22-30682138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682138
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682138
    reference: chr 22
allele count: 1
allele frequency: 1.733823427422151e-5
allele num: 57676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-715C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-223C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*614-51C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*530-51C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-51C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-7C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*544-51C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-51C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-51C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.744-51C>T
  variant of: http://identifiers.org/hgnc/34423
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14861
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 9.75e1
  variant carriers: 1
hgvs: c.*416-7C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

22-30682219-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682219
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682219
    reference: chr 22
allele count: 14
allele frequency: 1.603849238171612e-4
allele num: 87290
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.743+33G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-132G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-796G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*529+33G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-132G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-304G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-88G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*543+33G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-132G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*613+33G>C
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 6214
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10855
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16497
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11693
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4924
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP

22-30682225-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682225
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682225
    reference: chr 22
allele count: 1
allele frequency: 1.065689074555608e-5
allele num: 93836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*543+27C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-802C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*529+27C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-138C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-138C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-138C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-94C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*613+27C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.743+27C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-310C>T
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11384
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

22-30682226-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682226
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682226
    reference: chr 22
allele count: 1
allele frequency: 1.101515685583363e-5
allele num: 90784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-139G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*613+26G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*543+26G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-139G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-95G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-311G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-139G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.743+26G>C
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*529+26G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-803G>C
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15311
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13431
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

22-30682227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682227
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682227
    reference: chr 22
allele count: 1
allele frequency: 1.051325721735108e-5
allele num: 95118
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.743+25G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*613+25G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-804G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-140G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-96G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-140G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-140G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-312G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*543+25G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*529+25G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/22-30682229-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682229
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682229
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 93392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-806T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-142T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-314T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*613+23T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*529+23T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.743+23T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*543+23T>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-98T>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-142T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-142T>G
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13491
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

22-30682232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682232
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682232
    reference: chr 22
allele count: 1
allele frequency: 1.023415752415261e-5
allele num: 97712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-317G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*543+20G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.743+20G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*613+20G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-145G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-145G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-145G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*529+20G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-101G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-809G>A
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-30682234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682234
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682234
    reference: chr 22
allele count: 1
allele frequency: 1.004984724232192e-5
allele num: 99504
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-147C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*529+18C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*543+18C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-103C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-147C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.743+18C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-319C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-147C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*613+18C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-811C>T
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23317
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

22-30682234-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682234
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682234
    reference: chr 22
allele count: 2
allele frequency: 2.009969448464383e-5
allele num: 99504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-103C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.743+18C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*543+18C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*613+18C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-811C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-319C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-147C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-147C>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-147C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*529+18C>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

22-30682235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682235
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682235
    reference: chr 22
allele count: 1
allele frequency: 9.981235277677965e-6
allele num: 100188
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.743+17C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-812C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*529+17C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-104C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-320C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-148C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*543+17C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-148C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*613+17C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-148C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

22-30682242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682242
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682242
    reference: chr 22
allele count: 1
allele frequency: 9.391787820729554e-6
allele num: 106476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*543+10C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*529+10C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-155C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*613+10C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-819C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.743+10C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-111C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-327C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-155C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-155C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26445
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-30682243-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682243
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682243
    reference: chr 22
allele count: 26
allele frequency: 2.428363283147159e-4
allele num: 107068
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.743+9C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*543+9C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-156C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*529+9C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-156C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-112C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-328C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-820C>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-156C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*613+9C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3796
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11971
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27093
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

22-30682257-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682257
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682255
    reference: chr 22
allele count: 3
allele frequency: 2.592330159169072e-5
allele num: 115726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-128_*416-127delCA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*536_*537delCA
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-172_*484-171delCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-836_85-835delCA
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*606_*607delCA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*522_*523delCA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.736_737delCA
  hgvsp: ENSP00000384183.3:p.Gln246GlufsTer6
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-344_*306-343delCA
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-172_1197-171delCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-172_630-171delCA
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33661
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln246GlufsTer6
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: CTG
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-30682258-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682258
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682258
    reference: chr 22
allele count: 1
allele frequency: 8.612819320276298e-6
allele num: 116106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*607A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*537A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-171A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-127A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-835A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-343A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-171A>G
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-171A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*523A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.737A>G
  hgvsp: ENSP00000384183.3:p.Gln246Arg
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43519
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln246Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

22-30682274-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682274
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682274
    reference: chr 22
allele count: 1
allele frequency: 8.404491360182881e-6
allele num: 118984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-143A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000497605
  gene symbol: GATSL3
  hgvsc: ENST00000497605.2:n.1132A>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-187A>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*591A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*507A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.721A>T
  hgvsp: ENSP00000384183.3:p.Met241Leu
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*521A>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-851A>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-359A>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-187A>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-187A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met241Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

22-30682292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682292
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682292
    reference: chr 22
allele count: 10
allele frequency: 8.3515675892365e-5
allele num: 119738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-205G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000497605
  gene symbol: GATSL3
  hgvsc: ENST00000497605.2:n.1114G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-205G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-377G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.703G>A
  hgvsp: ENSP00000384183.3:p.Gly235Ser
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-205G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-161G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*573G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*503G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*489G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-869G>A
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly235Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

22-30682293-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682293
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682293
    reference: chr 22
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*502G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*572G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*488G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000497605
  gene symbol: GATSL3
  hgvsc: ENST00000497605.2:n.1113G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.702G>A
  hgvsp: ENST00000407689.3:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-206G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-162G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-870G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-206G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-206G>A
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-378G>A
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35783
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu234Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

22-30682299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682299
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682299
    reference: chr 22
allele count: 1
allele frequency: 8.340005337603416e-6
allele num: 119904
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-212C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.696C>T
  hgvsp: ENST00000407689.3:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*566C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000497605
  gene symbol: GATSL3
  hgvsc: ENST00000497605.2:n.1107C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*496C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-876C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-212C>T
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-212C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*482C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-168C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-384C>T
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu232Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

22-30682301-G-GGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30682301
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30682304
    reference: chr 22
allele count: 2
allele frequency: 1.667639456349537e-5
allele num: 119930
alternate allele: GGGA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000406516
  ensembl transcript: ENST00000447976
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000447976.1:c.*477_*479dupTCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000497605
  gene symbol: GATSL3
  hgvsc: ENST00000497605.2:n.1102_1104dupTCC
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl transcript: ENST00000459785
  gene symbol: GATSL3
  hgvsc: ENST00000459785.1:n.85-881_85-879dupTCC
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000331267
  ensembl transcript: ENST00000330168
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000330168.5:c.*561_*563dupTCC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000411842
  ensembl transcript: ENST00000440839
  gene symbol: GATSL3
  hgvsc: ENST00000440839.1:c.*306-389_*306-387dupTCC
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000385868
  ensembl transcript: ENST00000404953
  gene symbol: GATSL3
  hgvsc: ENST00000404953.3:c.630-217_630-215dupTCC
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000384183
  ensembl transcript: ENST00000407689
  gene symbol: GATSL3
  hgvsc: ENST00000407689.3:c.691_693dupTCC
  hgvsp: ENSP00000384183.3:p.Ser231dup
  variant of: http://identifiers.org/hgnc/34423
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000400319
  ensembl transcript: ENST00000418047
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000418047.1:c.*416-173_*416-171dupTCC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000401535
  ensembl transcript: ENST00000434291
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434291.1:c.1197-217_1197-215dupTCC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248751
  ensembl protein: ENSP00000415854
  ensembl transcript: ENST00000434987
  gene symbol: RP1-130H16.18
  hgvsc: ENST00000434987.1:c.*484-217_*484-215dupTCC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000239282
  ensembl protein: ENSP00000390869
  ensembl transcript: ENST00000421236
  gene symbol: GATSL3
  hgvsc: ENST00000421236.1:c.*491_*493dupTCC
  variant of: http://identifiers.org/hgnc/34423
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser231dup
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 269
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3781
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2373
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2224
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20868
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 993
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4200
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3118
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1343
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 488
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 953
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 580
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.699248120300752e-4
allele num: 2128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.159692482328053e-5
allele num: 38762
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.092050209205021e-3
allele num: 478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.572704537334762e-4
allele num: 5598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.653e1

QD
type: SiteQuality
SIO_000300: 2.591e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

DP
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MQRankSum
type: SiteQuality
SIO_000300: -1.026e0

ClippingRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -7.445000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.5e0
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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variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.836884643644379e-4
allele num: 5444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.557469692826542e-5
allele num: 43884
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5742
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.671e1

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

DP
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FS
type: SiteQuality
SIO_000300: 2.654e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.208968411751712e-5
allele num: 45270
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12114
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: -4.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.434e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

MQ
type: SiteQuality
SIO_000300: 5.627e1

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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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.66333998669328e-4
allele num: 6012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45616
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.125e1

DP
type: SiteQuality
SIO_000300: 1.027056e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.26e-1

FS
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.659e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.401e0

MQRankSum
type: SiteQuality
SIO_000300: -2.42e0

QD
type: SiteQuality
SIO_000300: 6.83e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.529987760097919e-4
allele num: 6536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.197e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

DP
type: SiteQuality
SIO_000300: 1.030448e6

MQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.584e0

FS
type: SiteQuality
SIO_000300: 7.253e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

QD
type: SiteQuality
SIO_000300: 1.612e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.128293534244243e-5
allele num: 46986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12272
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.85e0

MQ
type: SiteQuality
SIO_000300: 5.629e1

VQSLOD
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DP
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ClippingRankSum
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-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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bin: 7.75e1
variant carriers: 0

Latino
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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: 1
allele frequency: 8.072328059412334e-5
allele num: 12388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 48316
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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FS
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VQSLOD
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
type: Population
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Latino
type: Population
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allele frequency: 1.537515375153752e-4
allele num: 6504
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European (Finnish)
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allele num: 3022
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South Asian
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allele frequency: 0.0e0
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African
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BaseQRankSum
type: SiteQuality
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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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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bin: 2.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 6726
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.550387596899225e-4
allele num: 6450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
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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

European (Non-Finnish)
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allele count: 5
allele frequency: 1.051215204776722e-4
allele num: 47564
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

FS
type: SiteQuality
SIO_000300: 3.8969e1

QD
type: SiteQuality
SIO_000300: 1.432e1

MQ
type: SiteQuality
SIO_000300: 5.773e1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-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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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.093188763762716e-5
allele num: 47774
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3028
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.303e1

BaseQRankSum
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SIO_000300: -1.754e0

FS
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SIO_000300: 0.0e0

QD
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DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-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: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47552
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6726
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2992
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 frequency: 8.072328059412334e-5
allele num: 12388
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.479e0

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

FS
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MQ
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

DP
type: SiteQuality
SIO_000300: 1.051315e6

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.123052099698527e-5
allele num: 47102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 2.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 1.038792e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.315e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

GenotypeQuality
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bin: 7.5e0
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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.407518154634771e-5
allele num: 46820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6650
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2884
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.029453e6

ClippingRankSum
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SIO_000300: -1.076e0

MQ
type: SiteQuality
SIO_000300: 5.481e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

QD
type: SiteQuality
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MQRankSum
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SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.461e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 8.532423208191126e-5
allele num: 11720
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5708
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42366
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2490
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.647989452867502e-4
allele num: 6068
num of homozygotes: 0

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

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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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

MQ
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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Other
type: Population
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African
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 39388
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South Asian
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4648
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 5.093205663644698e-5
allele num: 39268
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2252
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
type: Population
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Other
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

QD
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SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

DP
type: SiteQuality
SIO_000300: 8.28799e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4666
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 8.880994671403197e-5
allele num: 11260
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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 39314
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.13e0

MQ
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SIO_000300: 5.443e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2262
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.1468441391155e-4
allele num: 4658
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39266
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

FS
type: SiteQuality
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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SIO_000300: -2.511e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

InbreedingCoeff
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SIO_000300: -1.12e-2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.629226481569122e-5
allele num: 38034
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.824e-1

QD
type: SiteQuality
SIO_000300: 7.82e0

FS
type: SiteQuality
SIO_000300: 4.712e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 8.07851e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

MQ
type: SiteQuality
SIO_000300: 5.59e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-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
all individuals: 1868
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 7.102272727272727e-4
allele num: 5632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2120
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQ
type: SiteQuality
SIO_000300: 5.685e1

DP
type: SiteQuality
SIO_000300: 8.02271e5

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

FS
type: SiteQuality
SIO_000300: 9.994999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.34e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.527e1

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

Latino
type: Population
allele count: 1
allele frequency: 3.523608174770966e-4
allele num: 2838
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30026
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1518
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQRankSum
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DP
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SIO_000300: 6.9005e5

VQSLOD
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.11e-2

MQ
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SIO_000300: 5.833e1

BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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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
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 6.84369011771147e-5
allele num: 29224
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 9.54e-1

InbreedingCoeff
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DP
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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QD
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FS
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.11632060727841e-4
allele num: 8958
num of homozygotes: 0

African
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.442577802258331e-5
allele num: 29048
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Other
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East Asian
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QD
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FS
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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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BaseQRankSum
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MQ
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SIO_000300: 5.719e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.194762213108857e-5
allele num: 27798
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.26e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.36e0

DP
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SIO_000300: 6.57139e5

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.146e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4654
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.576026319553712e-5
allele num: 27964
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.19e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.119e0

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.766e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.33e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.244801854669275e-5
allele num: 27606
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.13564929693962e-4
allele num: 2418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

FS
type: SiteQuality
SIO_000300: 3.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.243e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 6.50792e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-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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variant carriers: 39

GenotypeQuality
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variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2542
num of homozygotes: 0

East Asian
type: Population
allele count: 45
allele frequency: 1.150306748466258e-2
allele num: 3912
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1358
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.125e-3
allele num: 320
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.59524e5

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

MQ
type: SiteQuality
SIO_000300: 5.787e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.365e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

FS
type: SiteQuality
SIO_000300: 4.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-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: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.561760934606069e-5
allele num: 28076
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7312
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.45e0

QD
type: SiteQuality
SIO_000300: 3.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.58372e5

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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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.348799568384138e-4
allele num: 7414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3974
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ClippingRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.106e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: -1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -2.444e0

DP
type: SiteQuality
SIO_000300: 6.63866e5

MQ
type: SiteQuality
SIO_000300: 5.495e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2754
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.094679514034353e-4
allele num: 4774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1384
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.485e1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.188e0

FS
type: SiteQuality
SIO_000300: 5.792e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.018e0

DP
type: SiteQuality
SIO_000300: 6.74317e5

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 13
allele frequency: 8.655126498002663e-3
allele num: 1502
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 1.439144736842105e-3
allele num: 4864
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.901915264074289e-4
allele num: 6892
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 8.982035928143712e-3
allele num: 334
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.385496183206107e-4
allele num: 4192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 152
allele frequency: 5.045475668857466e-3
allele num: 30126
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 5.401755570560433e-3
allele num: 2962
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.731e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

MQ
type: SiteQuality
SIO_000300: 5.871e1

DP
type: SiteQuality
SIO_000300: 7.01457e5

GenotypeQuality
all individuals: 700
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 344
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GenotypeQuality
all individuals: 1508
bin: 1.75e1
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GenotypeQuality
all individuals: 3621
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31511
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3280
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1479
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4912
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 3.599193780593147e-3
allele num: 6946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.276969458644646e-5
allele num: 30516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3044
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.1072e5

VQSLOD
type: SiteQuality
SIO_000300: 4.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.43e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
all individuals: 3581
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 306
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 4.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30424
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.75e1
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GenotypeQuality
all individuals: 152
bin: 9.25e1
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GenotypeQuality
all individuals: 1270
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11927
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.861066605630579e-5
allele num: 34952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.005e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

DP
type: SiteQuality
SIO_000300: 7.91177e5

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 7.91e0

GenotypeQuality
all individuals: 2287
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3203
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 500
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 254
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 131
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 29935
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 395
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1181
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 404
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2570
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 668
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 812
bin: 9.75e1
variant carriers: 135

GenotypeQuality
all individuals: 421
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 256
bin: 8.25e1
variant carriers: 3

South Asian
type: Population
allele count: 112
allele frequency: 1.650943396226415e-2
allele num: 6784
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 9.861932938856016e-4
allele num: 4056
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.978630787495053e-4
allele num: 5054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 6.067626454851344e-4
allele num: 36258
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

DP
type: SiteQuality
SIO_000300: 8.16372e5

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22249
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.677289500167729e-4
allele num: 5962
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.52e-1

FS
type: SiteQuality
SIO_000300: 3.565e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 9.41833e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

QD
type: SiteQuality
SIO_000300: 1.209e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

GenotypeQuality
all individuals: 561
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1507
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.363572893485186e-5
allele num: 45834
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.74154e5

FS
type: SiteQuality
SIO_000300: 8.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

QD
type: SiteQuality
SIO_000300: 6.4e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.237e-1

GenotypeQuality
all individuals: 173
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22135
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 9.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.229e1

FS
type: SiteQuality
SIO_000300: 4.465e0

DP
type: SiteQuality
SIO_000300: 9.84015e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

GenotypeQuality
all individuals: 1357
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21436
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.101281781886951e-5
allele num: 47590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

MQ
type: SiteQuality
SIO_000300: 5.747e1

FS
type: SiteQuality
SIO_000300: 2.703e0

VQSLOD
type: SiteQuality
SIO_000300: -1.721e0

DP
type: SiteQuality
SIO_000300: 9.90798e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 5.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

GenotypeQuality
all individuals: 286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21682
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 482
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.936857562408223e-4
allele num: 6810
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.556662515566625e-4
allele num: 6424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.099076406381192e-5
allele num: 47640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.127e-1

FS
type: SiteQuality
SIO_000300: 2.427e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

DP
type: SiteQuality
SIO_000300: 9.88694e5

GenotypeQuality
all individuals: 225
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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bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47640
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: 1
allele frequency: 1.642036124794746e-4
allele num: 6090
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

FS
type: SiteQuality
SIO_000300: 2.427e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

BaseQRankSum
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SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.127e-1

DP
type: SiteQuality
SIO_000300: 9.88694e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

GenotypeQuality
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bin: 7.5e0
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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6692
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.108725907806503e-5
allele num: 47422
num of homozygotes: 0

European (Finnish)
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: 504
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.711e0

BaseQRankSum
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SIO_000300: -1.482e0

VQSLOD
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SIO_000300: -1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

QD
type: SiteQuality
SIO_000300: 5.44e0

DP
type: SiteQuality
SIO_000300: 9.74673e5

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 1
allele frequency: 1.710571330824495e-4
allele num: 5846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5596
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 4.12e0

MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

FS
type: SiteQuality
SIO_000300: 3.067e0

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.137e0

DP
type: SiteQuality
SIO_000300: 8.12171e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5522
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4790
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

QD
type: SiteQuality
SIO_000300: 8.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.97638e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.21e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-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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bin: 3.25e1
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GenotypeQuality
all individuals: 675
bin: 9.75e1
variant carriers: 4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.372254115860891e-5
allele num: 42154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2504
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 5.753739930955121e-4
allele num: 5214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.96e0

MQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 1.319e0

DP
type: SiteQuality
SIO_000300: 7.66041e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

MQ
type: SiteQuality
SIO_000300: 5.635e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

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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variant carriers: 35

GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 8.78462174452253e-4
allele num: 38704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4102
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2208
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.86e-2

DP
type: SiteQuality
SIO_000300: 7.11072e5

QD
type: SiteQuality
SIO_000300: 1.21e1

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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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4244
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5158
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.398081534772182e-4
allele num: 4170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2260
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 38932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.276e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.826e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-1

DP
type: SiteQuality
SIO_000300: 7.09044e5

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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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.690486439948343e-5
allele num: 37168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2164
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5686
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.4330900243309e-4
allele num: 4110
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.512e0

BaseQRankSum
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SIO_000300: -1.098e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.96169e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

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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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4124
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5704
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.682547346960674e-5
allele num: 37278
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.938e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.92e-2

FS
type: SiteQuality
SIO_000300: 7.73e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.845e1

VQSLOD
type: SiteQuality
SIO_000300: -9.008e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

DP
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SIO_000300: 6.96585e5

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.710614767429253e-5
allele num: 36892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4142
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3586
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5646
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.186e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.765e0

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

BaseQRankSum
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SIO_000300: 9.03e-1

VQSLOD
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SIO_000300: -1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 6.96747e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.93e-2

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.374169040835708e-4
allele num: 4212
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3566
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36890
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
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SIO_000300: 7.01621e5

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.91e-2

FS
type: SiteQuality
SIO_000300: 6.154e0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.54e-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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.820078962210942e-4
allele num: 7092
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.413056643384876e-4
allele num: 49538
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 4.894762604013706e-4
allele num: 4086
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.317318090529893e-4
allele num: 12946
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.018e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.997e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 1.30644e2

DP
type: SiteQuality
SIO_000300: 1.022261e6

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13372
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53016
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.309586170770037e-4
allele num: 7636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
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VQSLOD
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SIO_000300: -1.508e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.063108e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.555e0

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

Latino
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
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num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 2.221235006663705e-4
allele num: 4502
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51746
num of homozygotes: 0

African
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 1.51537e2

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 6.4e-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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5034
num of homozygotes: 0

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

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

South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.865184466743761e-5
allele num: 53614
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

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

European (Finnish)
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East Asian
type: Population
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Other
type: Population
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African
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South Asian
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.109823e6

QD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeQuality
all individuals: 13577
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4446
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 981
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4736
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21513
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4007
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6664
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54870
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13882
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.595e-1

DP
type: SiteQuality
SIO_000300: 1.145919e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

FS
type: SiteQuality
SIO_000300: 6.406e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.5e0
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GenotypeQuality
all individuals: 428
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 1389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2270
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 741
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variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.789869339538214e-5
allele num: 55870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

DP
type: SiteQuality
SIO_000300: 1.174442e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

GenotypeQuality
all individuals: 722
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 741
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.579738679076428e-5
allele num: 55870
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.174442e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

GenotypeQuality
all individuals: 12503
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
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variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 347
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 710
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variant carriers: 0

GenotypeQuality
all individuals: 1407
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
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variant carriers: 0

GenotypeQuality
all individuals: 2090
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variant carriers: 0

GenotypeQuality
all individuals: 751
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variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.21654501216545e-4
allele num: 8220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6862
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.3735e1

QD
type: SiteQuality
SIO_000300: 6.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.897e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.945e0

DP
type: SiteQuality
SIO_000300: 1.188561e6

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
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variant carriers: 0

GenotypeQuality
all individuals: 5536
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
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variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
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variant carriers: 0

GenotypeQuality
all individuals: 32465
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.739452756436177e-5
allele num: 14838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.027e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.873e0

DP
type: SiteQuality
SIO_000300: 1.301203e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

GenotypeQuality
all individuals: 81
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5608
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
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variant carriers: 0

GenotypeQuality
all individuals: 413
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variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 33184
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variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
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variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
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variant carriers: 0

GenotypeQuality
all individuals: 2143
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variant carriers: 0

GenotypeQuality
all individuals: 452
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variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1212
bin: 9.75e1
variant carriers: 25

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.370162046337217e-5
allele num: 59736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 21
allele frequency: 3.657262277951933e-3
allele num: 5742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

FS
type: SiteQuality
SIO_000300: 1.625e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.053e1

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

DP
type: SiteQuality
SIO_000300: 1.30883e6

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

GenotypeQuality
all individuals: 164
bin: 7.5e0
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GenotypeQuality
all individuals: 2748
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 187
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GenotypeQuality
all individuals: 43046
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variant carriers: 0

GenotypeQuality
all individuals: 676
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 181
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GenotypeQuality
all individuals: 433
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GenotypeQuality
all individuals: 6327
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variant carriers: 0

GenotypeQuality
all individuals: 370
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variant carriers: 0

GenotypeQuality
all individuals: 338
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GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15806
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.723311546840959e-4
allele num: 11016
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64072
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.079e0

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.440848e6

QD
type: SiteQuality
SIO_000300: 1.206e1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

MQ
type: SiteQuality
SIO_000300: 6.035e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6379
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GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
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variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 1131
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variant carriers: 1

GenotypeQuality
all individuals: 2533
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variant carriers: 0

GenotypeQuality
all individuals: 180
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GenotypeQuality
all individuals: 164
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GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
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GenotypeQuality
all individuals: 1640
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GenotypeQuality
all individuals: 335
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variant carriers: 0

GenotypeQuality
all individuals: 1429
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GenotypeQuality
all individuals: 771
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556032738928827e-5
allele num: 64266
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.445435e6

QD
type: SiteQuality
SIO_000300: 5.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.847e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.13e-1

GenotypeQuality
all individuals: 1130
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 929
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 376
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6709
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46291
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523182842868458e-5
allele num: 65652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

DP
type: SiteQuality
SIO_000300: 1.487218e6

GenotypeQuality
all individuals: 1710
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6801
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

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

Latino
type: Population
allele count: 10
allele frequency: 8.692628650904034e-4
allele num: 11504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.155e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

QD
type: SiteQuality
SIO_000300: 1.23e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

DP
type: SiteQuality
SIO_000300: 1.498917e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
all individuals: 775
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6803
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46935
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513958699206686e-5
allele num: 66052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.499237e6

FS
type: SiteQuality
SIO_000300: 8.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.975e1

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.013e0

GenotypeQuality
all individuals: 1476
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47015
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6823
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511670093118878e-5
allele num: 66152
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.501334e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.947e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.382e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

FS
type: SiteQuality
SIO_000300: 8.271000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.197e0

QD
type: SiteQuality
SIO_000300: 7.99e0