4-113352618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352618
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352618
    reference: chr 4
allele count: 6
allele frequency: 4.942176534545814e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.1915C>T
  hgvsp: ENSP00000177648.9:p.His639Tyr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1358C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2403C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.1915C>T
  hgvsp: ENSP00000398048.1:p.His639Tyr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2209C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1681C>T
  hgvsp: ENSP00000426044.2:p.His561Tyr
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48313
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5404
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His639Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

4-113352627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352627
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352627
    reference: chr 4
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2412C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.1924C>T
  hgvsp: ENSP00000398048.1:p.His642Tyr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1690C>T
  hgvsp: ENSP00000426044.2:p.His564Tyr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.1924C>T
  hgvsp: ENSP00000177648.9:p.His642Tyr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2218C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1367C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48316
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His642Tyr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

4-113352628-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352628
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352628
    reference: chr 4
allele count: 78834
allele frequency: 6.495237781366378e-1
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.1925A>G
  hgvsp: ENSP00000398048.1:p.His642Arg
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1691A>G
  hgvsp: ENSP00000426044.2:p.His564Arg
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.1925A>G
  hgvsp: ENSP00000177648.9:p.His642Arg
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2413A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1368A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2219A>G
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 7.25e1
  variant carriers: 4311
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 2.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.75e1
  variant carriers: 1524
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 8.25e1
  variant carriers: 4244
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 5.75e1
  variant carriers: 2792
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.25e1
  variant carriers: 2125
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 2.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 576
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 6.75e1
  variant carriers: 4003
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 7.75e1
  variant carriers: 4461
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 9.25e1
  variant carriers: 3185
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 6.25e1
  variant carriers: 3539
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.25e1
  variant carriers: 993
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 8.75e1
  variant carriers: 3685
genotype depth: GenotypeDepth
  all individuals: 16949
  bin: 9.75e1
  variant carriers: 16918
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.75e1
  variant carriers: 27
hgvs: p.His642Arg
num of homozygotes: 25914
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

4-113352631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352631
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352631
    reference: chr 4
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.1928C>T
  hgvsp: ENSP00000177648.9:p.Ser643Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2222C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1694C>T
  hgvsp: ENSP00000426044.2:p.Ser565Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.1928C>T
  hgvsp: ENSP00000398048.1:p.Ser643Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1371C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2416C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser643Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

4-113352635-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352635
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352635
    reference: chr 4
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.1932G>C
  hgvsp: ENSP00000177648.9:p.Gln644His
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1375G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.1932G>C
  hgvsp: ENSP00000398048.1:p.Gln644His
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2420G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2226G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1698G>C
  hgvsp: ENSP00000426044.2:p.Gln566His
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45972
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln644His
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

4-113352644-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352644
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352644
    reference: chr 4
allele count: 93
allele frequency: 7.660121244069583e-4
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1707T>G
  hgvsp: ENSP00000426044.2:p.Asp569Glu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2429T>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.1941T>G
  hgvsp: ENSP00000177648.9:p.Asp647Glu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1384T>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.1941T>G
  hgvsp: ENSP00000398048.1:p.Asp647Glu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2235T>G
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp647Glu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-113352647-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352647
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352647
    reference: chr 4
allele count: 9
allele frequency: 7.413142678286081e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.1944C>T
  hgvsp: ENST00000458497.1:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1387C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2238C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.1944C>T
  hgvsp: ENST00000177648.9:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1710C>T
  hgvsp: ENST00000504176.2:c.1710C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2432C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45948
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 6732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu648Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/4-113352681-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352681
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352681
    reference: chr 4
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1421C>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.1978C>A
  hgvsp: ENSP00000177648.9:p.Pro660Thr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1744C>A
  hgvsp: ENSP00000426044.2:p.Pro582Thr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.1978C>A
  hgvsp: ENSP00000398048.1:p.Pro660Thr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2466C>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2272C>A
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro660Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

4-113352681-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352681
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352681
    reference: chr 4
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2466C>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1421C>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.1978C>G
  hgvsp: ENSP00000398048.1:p.Pro660Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1744C>G
  hgvsp: ENSP00000426044.2:p.Pro582Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.1978C>G
  hgvsp: ENSP00000177648.9:p.Pro660Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2272C>G
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro660Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-113352681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352681
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352681
    reference: chr 4
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1744C>T
  hgvsp: ENSP00000426044.2:p.Pro582Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.1978C>T
  hgvsp: ENSP00000177648.9:p.Pro660Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.1978C>T
  hgvsp: ENSP00000398048.1:p.Pro660Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1421C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2466C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2272C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro660Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

4-113352682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352682
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352682
    reference: chr 4
allele count: 210
allele frequency: 1.72970479704797e-3
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.1979C>T
  hgvsp: ENSP00000177648.9:p.Pro660Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.1979C>T
  hgvsp: ENSP00000398048.1:p.Pro660Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2273C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1422C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2467C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1745C>T
  hgvsp: ENSP00000426044.2:p.Pro582Leu
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 9.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro660Leu
num of homozygotes: 2
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

4-113352710-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352710
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352710
    reference: chr 4
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2007G>A
  hgvsp: ENSP00000177648.9:p.Met669Ile
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2301G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2495G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2007G>A
  hgvsp: ENSP00000398048.1:p.Met669Ile
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1450G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1773G>A
  hgvsp: ENSP00000426044.2:p.Met591Ile
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45898
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met669Ile
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-113352711-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352711
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352711
    reference: chr 4
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1774C>A
  hgvsp: ENSP00000426044.2:p.Pro592Thr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2008C>A
  hgvsp: ENSP00000398048.1:p.Pro670Thr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2302C>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1451C>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2008C>A
  hgvsp: ENSP00000177648.9:p.Pro670Thr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2496C>A
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro670Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-113352712-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352712
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352712
    reference: chr 4
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1775C>T
  hgvsp: ENSP00000426044.2:p.Pro592Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1452C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2497C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2009C>T
  hgvsp: ENSP00000177648.9:p.Pro670Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2009C>T
  hgvsp: ENSP00000398048.1:p.Pro670Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2303C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45897
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro670Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

4-113352720-CCCTTCTCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352720
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352712
    reference: chr 4
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsp: ENSP00000426044.2:p.Phe596SerfsTer2
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsp: ENSP00000398048.1:p.Phe674SerfsTer2
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsp: ENSP00000177648.9:p.Phe674SerfsTer2
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45897
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe674SerfsTer2
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: CCCTTCTCG
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

4-113352727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352727
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352727
    reference: chr 4
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1790C>T
  hgvsp: ENSP00000426044.2:p.Ser597Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2318C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2024C>T
  hgvsp: ENSP00000398048.1:p.Ser675Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1467C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2512C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2024C>T
  hgvsp: ENSP00000177648.9:p.Ser675Leu
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser675Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

4-113352728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352728
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352728
    reference: chr 4
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1468G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2025G>A
  hgvsp: ENST00000458497.1:c.2025G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1791G>A
  hgvsp: ENST00000504176.2:c.1791G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2025G>A
  hgvsp: ENST00000177648.9:c.2025G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2319G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2513G>A
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45894
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser675Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

4-113352732-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352732
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352732
    reference: chr 4
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1472C>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1795C>G
  hgvsp: ENSP00000426044.2:p.His599Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2029C>G
  hgvsp: ENSP00000398048.1:p.His677Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2323C>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2029C>G
  hgvsp: ENSP00000177648.9:p.His677Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2517C>G
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45893
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His677Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-113352739-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352739
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352739
    reference: chr 4
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2524C>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1802C>G
  hgvsp: ENSP00000426044.2:p.Thr601Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2330C>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2036C>G
  hgvsp: ENSP00000177648.9:p.Thr679Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2036C>G
  hgvsp: ENSP00000398048.1:p.Thr679Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1479C>G
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45892
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr679Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

4-113352739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352739
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352739
    reference: chr 4
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2524C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1479C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2330C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2036C>T
  hgvsp: ENSP00000177648.9:p.Thr679Ile
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1802C>T
  hgvsp: ENSP00000426044.2:p.Thr601Ile
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2036C>T
  hgvsp: ENSP00000398048.1:p.Thr679Ile
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr679Ile
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-113352742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352742
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352742
    reference: chr 4
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1482C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2039C>T
  hgvsp: ENSP00000398048.1:p.Pro680Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1805C>T
  hgvsp: ENSP00000426044.2:p.Pro602Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2333C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2039C>T
  hgvsp: ENSP00000177648.9:p.Pro680Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2527C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro680Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/4-113352743-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352743
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352743
    reference: chr 4
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1806A>C
  hgvsp: ENST00000504176.2:c.1806A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2528A>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2334A>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2040A>C
  hgvsp: ENST00000177648.9:c.2040A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2040A>C
  hgvsp: ENST00000458497.1:c.2040A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1483A>C
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro680Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

4-113352745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352745
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352745
    reference: chr 4
allele count: 1243
allele frequency: 1.024157932898293e-2
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2336G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2042G>A
  hgvsp: ENSP00000177648.9:p.Gly681Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1808G>A
  hgvsp: ENSP00000426044.2:p.Gly603Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1485G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2042G>A
  hgvsp: ENSP00000398048.1:p.Gly681Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2530G>A
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 8.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 6.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 4.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 7.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 5.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 9.75e1
  variant carriers: 288
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 6.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 9.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 7.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 8.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 5.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly681Asp
num of homozygotes: 15
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum

4-113352755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352755
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352755
    reference: chr 4
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2052G>A
  hgvsp: ENST00000177648.9:c.2052G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2540G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1818G>A
  hgvsp: ENST00000504176.2:c.1818G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2052G>A
  hgvsp: ENST00000458497.1:c.2052G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1495G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2346G>A
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu684Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

4-113352757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352757
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352757
    reference: chr 4
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1497C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2054C>T
  hgvsp: ENSP00000177648.9:p.Ala685Val
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2348C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2054C>T
  hgvsp: ENSP00000398048.1:p.Ala685Val
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1820C>T
  hgvsp: ENSP00000426044.2:p.Ala607Val
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2542C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45809
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala685Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

4-113352758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352758
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352758
    reference: chr 4
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1821C>T
  hgvsp: ENST00000504176.2:c.1821C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2055C>T
  hgvsp: ENST00000458497.1:c.2055C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2543C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2349C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2055C>T
  hgvsp: ENST00000177648.9:c.2055C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1498C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala685Ala
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

4-113352759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352759
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352759
    reference: chr 4
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2056C>T
  hgvsp: ENSP00000398048.1:p.Pro686Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2544C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1499C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2056C>T
  hgvsp: ENSP00000177648.9:p.Pro686Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1822C>T
  hgvsp: ENSP00000426044.2:p.Pro608Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2350C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45811
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro686Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

4-113352765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352765
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352765
    reference: chr 4
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2062G>A
  hgvsp: ENSP00000398048.1:p.Ala688Thr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2062G>A
  hgvsp: ENSP00000177648.9:p.Ala688Thr
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2550G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2356G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1505G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1828G>A
  hgvsp: ENSP00000426044.2:p.Ala610Thr
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45805
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala688Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

4-113352768-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352768
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352768
    reference: chr 4
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2359G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2065G>C
  hgvsp: ENSP00000398048.1:p.Gly689Arg
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2065G>C
  hgvsp: ENSP00000177648.9:p.Gly689Arg
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1508G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1831G>C
  hgvsp: ENSP00000426044.2:p.Gly611Arg
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2553G>C
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly689Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

4-113352769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352769
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352769
    reference: chr 4
allele count: 14
allele frequency: 1.153649653081069e-4
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2066G>A
  hgvsp: ENSP00000177648.9:p.Gly689Glu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2066G>A
  hgvsp: ENSP00000398048.1:p.Gly689Glu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1509G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2554G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2360G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1832G>A
  hgvsp: ENSP00000426044.2:p.Gly611Glu
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5733
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45807
  bin: 9.75e1
  variant carriers: 14
hgvs: p.Gly689Glu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-113352775-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352775
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352775
    reference: chr 4
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2366T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1515T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1838T>C
  hgvsp: ENSP00000426044.2:p.Leu613Pro
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2560T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2072T>C
  hgvsp: ENSP00000398048.1:p.Leu691Pro
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2072T>C
  hgvsp: ENSP00000177648.9:p.Leu691Pro
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu691Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

4-113352775-TAGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352775
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352772
    reference: chr 4
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2075_2077delAAG
  hgvsp: ENSP00000398048.1:p.Glu692del
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2369_900+2371delAAG
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2075_2077delAAG
  hgvsp: ENSP00000177648.9:p.Glu692del
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1518_*1520delAAG
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1841_1843delAAG
  hgvsp: ENSP00000426044.2:p.Glu614del
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2563_2565delAAG
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6564
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu692del
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: TAGA
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

4-113352783-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352783
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352783
    reference: chr 4
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2568G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2080G>C
  hgvsp: ENSP00000177648.9:p.Ala694Pro
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2374G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1523G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1846G>C
  hgvsp: ENSP00000426044.2:p.Ala616Pro
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2080G>C
  hgvsp: ENSP00000398048.1:p.Ala694Pro
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala694Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/4-113352799-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352799
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352799
    reference: chr 4
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2096A>C
  hgvsp: ENSP00000177648.9:p.Gln699Pro
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2390A>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2584A>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1862A>C
  hgvsp: ENSP00000426044.2:p.Gln621Pro
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1539A>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2096A>C
  hgvsp: ENSP00000398048.1:p.Gln699Pro
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln699Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/4-113352802-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352802
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352802
    reference: chr 4
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2587A>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2099A>C
  hgvsp: ENSP00000398048.1:p.Glu700Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2393A>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2099A>C
  hgvsp: ENSP00000177648.9:p.Glu700Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1542A>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1865A>C
  hgvsp: ENSP00000426044.2:p.Glu622Ala
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45806
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu700Ala
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

4-113352804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352804
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352804
    reference: chr 4
allele count: 3
allele frequency: 2.472147142197904e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1867G>A
  hgvsp: ENSP00000426044.2:p.Val623Ile
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1544G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2395G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2589G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2101G>A
  hgvsp: ENSP00000177648.9:p.Val701Ile
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2101G>A
  hgvsp: ENSP00000398048.1:p.Val701Ile
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val701Ile
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

4-113352812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352812
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352812
    reference: chr 4
allele count: 8
allele frequency: 6.592609684543627e-5
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2109T>C
  hgvsp: ENST00000177648.9:c.2109T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1552T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2109T>C
  hgvsp: ENST00000458497.1:c.2109T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1875T>C
  hgvsp: ENST00000504176.2:c.1875T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2403T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2597T>C
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45809
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn703Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-113352832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352832
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352832
    reference: chr 4
allele count: 2318
allele frequency: 1.910240139765629e-2
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2129C>T
  hgvsp: ENSP00000398048.1:p.Ser710Phe
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2129C>T
  hgvsp: ENSP00000177648.9:p.Ser710Phe
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2617C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1895C>T
  hgvsp: ENSP00000426044.2:p.Ser632Phe
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2423C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1572C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 9.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 8.25e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 6.25e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 6.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 7.75e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 4.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 8.75e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 5.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 7.25e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 5.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 9.75e1
  variant carriers: 392
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser710Phe
num of homozygotes: 25
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

4-113352833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352833
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352833
    reference: chr 4
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2130T>C
  hgvsp: ENST00000458497.1:c.2130T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2424T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2618T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1896T>C
  hgvsp: ENST00000504176.2:c.1896T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2130T>C
  hgvsp: ENST00000177648.9:c.2130T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1573T>C
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser710Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/4-113352855-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352855
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352855
    reference: chr 4
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2640C>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2446C>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2152C>A
  hgvsp: ENSP00000177648.9:p.Arg718Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2152C>A
  hgvsp: ENSP00000398048.1:p.Arg718Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1918C>A
  hgvsp: ENSP00000426044.2:p.Arg640Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1595C>A
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45342
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg718Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

4-113352856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352856
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352856
    reference: chr 4
allele count: 6
allele frequency: 4.946250741937611e-5
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1596G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2641G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2447G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1919G>A
  hgvsp: ENSP00000426044.2:p.Arg640His
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2153G>A
  hgvsp: ENSP00000398048.1:p.Arg718His
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2153G>A
  hgvsp: ENSP00000177648.9:p.Arg718His
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg718His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

4-113352860-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352860
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352860
    reference: chr 4
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2157T>C
  hgvsp: ENST00000177648.9:c.2157T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1600T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2157T>C
  hgvsp: ENST00000458497.1:c.2157T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2645T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1923T>C
  hgvsp: ENST00000504176.2:c.1923T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2451T>C
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45342
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser719Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

4-113352873-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352873
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352873
    reference: chr 4
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1613T>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2170T>G
  hgvsp: ENSP00000177648.9:p.Ser724Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2658T>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1936T>G
  hgvsp: ENSP00000426044.2:p.Ser646Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2170T>G
  hgvsp: ENSP00000398048.1:p.Ser724Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2464T>G
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45347
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser724Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

4-113352877-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352877
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352877
    reference: chr 4
allele count: 21
allele frequency: 1.731159217186289e-4
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1940A>G
  hgvsp: ENSP00000426044.2:p.Asp647Gly
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1617A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2662A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2468A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2174A>G
  hgvsp: ENSP00000177648.9:p.Asp725Gly
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2174A>G
  hgvsp: ENSP00000398048.1:p.Asp725Gly
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6698
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp725Gly
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: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

4-113352880-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352880
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352880
    reference: chr 4
allele count: 3
allele frequency: 2.473410833539451e-5
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1620C>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2177C>G
  hgvsp: ENSP00000398048.1:p.Ser726Cys
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1943C>G
  hgvsp: ENSP00000426044.2:p.Ser648Cys
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2665C>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2177C>G
  hgvsp: ENSP00000177648.9:p.Ser726Cys
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2471C>G
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45352
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser726Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

4-113352880-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352880
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352880
    reference: chr 4
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2471C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2177C>T
  hgvsp: ENSP00000177648.9:p.Ser726Phe
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1943C>T
  hgvsp: ENSP00000426044.2:p.Ser648Phe
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2177C>T
  hgvsp: ENSP00000398048.1:p.Ser726Phe
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1620C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2665C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser726Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

4-113352883-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352883
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352883
    reference: chr 4
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2668G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2180G>C
  hgvsp: ENSP00000398048.1:p.Gly727Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1946G>C
  hgvsp: ENSP00000426044.2:p.Gly649Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2180G>C
  hgvsp: ENSP00000177648.9:p.Gly727Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1623G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2474G>C
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly727Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

4-113352885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352885
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352885
    reference: chr 4
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2476A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2182A>G
  hgvsp: ENSP00000177648.9:p.Arg728Gly
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1625A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2182A>G
  hgvsp: ENSP00000398048.1:p.Arg728Gly
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1948A>G
  hgvsp: ENSP00000426044.2:p.Arg650Gly
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2670A>G
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6683
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg728Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

4-113352899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352899
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352899
    reference: chr 4
allele count: 75498
allele frequency: 6.224790989891661e-1
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2196G>A
  hgvsp: ENSP00000177648.9:p.Met732Ile
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1639G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1962G>A
  hgvsp: ENSP00000426044.2:p.Met654Ile
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2684G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2196G>A
  hgvsp: ENSP00000398048.1:p.Met732Ile
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2490G>A
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 5.75e1
  variant carriers: 1480
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 9.25e1
  variant carriers: 3546
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 8.25e1
  variant carriers: 3416
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 579
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.25e1
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 293
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 6.75e1
  variant carriers: 2517
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 553
genotype depth: GenotypeDepth
  all individuals: 24612
  bin: 9.75e1
  variant carriers: 24569
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 2.75e1
  variant carriers: 526
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 6.25e1
  variant carriers: 1904
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 822
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 5.25e1
  variant carriers: 1099
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 2.25e1
  variant carriers: 440
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 7.75e1
  variant carriers: 3113
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 7.25e1
  variant carriers: 2813
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 8.75e1
  variant carriers: 3471
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 6.75e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.25e1
  variant carriers: 114
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 49
hgvs: p.Met732Ile
num of homozygotes: 23747
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

4-113352909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352909
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352909
    reference: chr 4
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2206C>T
  hgvsp: ENSP00000398048.1:p.Pro736Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2500C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2206C>T
  hgvsp: ENSP00000177648.9:p.Pro736Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1649C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2694C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1972C>T
  hgvsp: ENSP00000426044.2:p.Pro658Ser
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro736Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-113352921-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352921
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352918
    reference: chr 4
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2713_2715delAAG
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2225_2227delAAG
  hgvsp: ENSP00000398048.1:p.Glu742del
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1991_1993delAAG
  hgvsp: ENSP00000426044.2:p.Glu664del
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2225_2227delAAG
  hgvsp: ENSP00000177648.9:p.Glu742del
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1668_*1670delAAG
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2519_900+2521delAAG
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7968
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu742del
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: AAAG
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

4-113352923-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352923
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352922
    reference: chr 4
allele count: 2
allele frequency: 1.65188231990353e-5
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2709delG
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1987delG
  hgvsp: ENSP00000426044.2:p.Glu663LysfsTer6
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1664delG
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2221delG
  hgvsp: ENSP00000398048.1:p.Glu741LysfsTer6
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2221delG
  hgvsp: ENSP00000177648.9:p.Glu741LysfsTer6
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2515delG
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu741LysfsTer6
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: AG
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

4-113352926-AGAAGCCTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352926
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352917
    reference: chr 4
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsp: ENSP00000177648.9:p.Ala743_Glu745del
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsp: ENSP00000426044.2:p.Ala665_Glu667del
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsp: ENSP00000398048.1:p.Ala743_Glu745del
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7960
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala743_Glu745del
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: AGAAGCCTTT
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

4-113352927-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352927
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352927
    reference: chr 4
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2224G>T
  hgvsp: ENSP00000398048.1:p.Glu742Ter
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2712G>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2224G>T
  hgvsp: ENSP00000177648.9:p.Glu742Ter
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2518G>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1667G>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1990G>T
  hgvsp: ENSP00000426044.2:p.Glu664Ter
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20517
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu742Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

4-113352931-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352931
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352931
    reference: chr 4
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2228C>T
  hgvsp: ENSP00000398048.1:p.Ala743Val
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2522C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1671C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2716C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.1994C>T
  hgvsp: ENSP00000426044.2:p.Ala665Val
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2228C>T
  hgvsp: ENSP00000177648.9:p.Ala743Val
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala743Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/4-113352949-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352949
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352949
    reference: chr 4
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2012A>C
  hgvsp: ENSP00000426044.2:p.Glu671Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2246A>C
  hgvsp: ENSP00000398048.1:p.Glu749Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2246A>C
  hgvsp: ENSP00000177648.9:p.Glu749Ala
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2734A>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1689A>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2540A>C
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu749Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-113352950-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352950
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352950
    reference: chr 4
allele count: 1
allele frequency: 8.27348843366317e-6
allele num: 120868
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2247G>C
  hgvsp: ENSP00000398048.1:p.Glu749Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2541G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2735G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2013G>C
  hgvsp: ENSP00000426044.2:p.Glu671Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2247G>C
  hgvsp: ENSP00000177648.9:p.Glu749Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1690G>C
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24022
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu749Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

4-113352951-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352951
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352951
    reference: chr 4
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2542T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2248T>C
  hgvsp: ENSP00000398048.1:p.Phe750Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1691T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2014T>C
  hgvsp: ENSP00000426044.2:p.Phe672Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2736T>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2248T>C
  hgvsp: ENSP00000177648.9:p.Phe750Leu
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15734
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe750Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

4-113352955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352955
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352955
    reference: chr 4
allele count: 11
allele frequency: 9.103548728813559e-5
allele num: 120832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2018C>T
  hgvsp: ENSP00000426044.2:p.Pro673Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2546C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2252C>T
  hgvsp: ENSP00000398048.1:p.Pro751Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1695C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2252C>T
  hgvsp: ENSP00000177648.9:p.Pro751Leu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2740C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro751Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/4-113352962-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352962
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352962
    reference: chr 4
allele count: 10
allele frequency: 8.277597510098668e-5
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2025C>A
  hgvsp: ENST00000504176.2:c.2025C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2259C>A
  hgvsp: ENST00000177648.9:c.2259C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2259C>A
  hgvsp: ENST00000458497.1:c.2259C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2747C>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1702C>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2553C>A
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15730
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr753Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

4-113352963-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352963
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352963
    reference: chr 4
allele count: 2
allele frequency: 1.655546909921693e-5
allele num: 120806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2260A>G
  hgvsp: ENSP00000177648.9:p.Asn754Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2026A>G
  hgvsp: ENSP00000426044.2:p.Asn676Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2260A>G
  hgvsp: ENSP00000398048.1:p.Asn754Asp
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1703A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2554A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2748A>G
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn754Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

4-113352968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352968
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352968
    reference: chr 4
allele count: 3
allele frequency: 2.483854942871336e-5
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2031C>T
  hgvsp: ENST00000504176.2:c.2031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1708C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2265C>T
  hgvsp: ENST00000177648.9:c.2265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2559C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2265C>T
  hgvsp: ENST00000458497.1:c.2265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2753C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15718
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys755Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

4-113352969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352969
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352969
    reference: chr 4
allele count: 4
allele frequency: 3.311587243765937e-5
allele num: 120788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2560G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2032G>A
  hgvsp: ENSP00000426044.2:p.Asp678Asn
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2266G>A
  hgvsp: ENSP00000398048.1:p.Asp756Asn
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2754G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2266G>A
  hgvsp: ENSP00000177648.9:p.Asp756Asn
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1709G>A
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20303
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp756Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

4-113352980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352980
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352980
    reference: chr 4
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2571C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2277C>T
  hgvsp: ENST00000458497.1:c.2277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2043C>T
  hgvsp: ENST00000504176.2:c.2043C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2765C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2277C>T
  hgvsp: ENST00000177648.9:c.2277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1720C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15710
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp759Asp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

4-113352983-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352983
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352983
    reference: chr 4
allele count: 2
allele frequency: 1.657385308936622e-5
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1723G>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2768G>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2280G>T
  hgvsp: ENSP00000177648.9:p.Arg760Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2574G>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2046G>T
  hgvsp: ENSP00000426044.2:p.Arg682Ser
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2280G>T
  hgvsp: ENSP00000398048.1:p.Arg760Ser
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg760Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

4-113352990-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352990
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352990
    reference: chr 4
allele count: 1
allele frequency: 8.290361625574107e-6
allele num: 120622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2581A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2775A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2287A>G
  hgvsp: ENSP00000177648.9:p.Lys763Glu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2287A>G
  hgvsp: ENSP00000398048.1:p.Lys763Glu
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1730A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2053A>G
  hgvsp: ENSP00000426044.2:p.Lys685Glu
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys763Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

4-113352995-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352995
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352995
    reference: chr 4
allele count: 2
allele frequency: 1.658649859014762e-5
allele num: 120580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1735G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2586G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2780G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2292G>A
  hgvsp: ENST00000458497.1:c.2292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2058G>A
  hgvsp: ENST00000504176.2:c.2058G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2292G>A
  hgvsp: ENST00000177648.9:c.2292G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu764Glu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

4-113352998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352998
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352998
    reference: chr 4
allele count: 39
allele frequency: 3.234742796476619e-4
allele num: 120566
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2295G>A
  hgvsp: ENST00000458497.1:c.2295G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1738G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2295G>A
  hgvsp: ENST00000177648.9:c.2295G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2589G>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2061G>A
  hgvsp: ENST00000504176.2:c.2061G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2783G>A
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10272
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln765Gln
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-113352999-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113352999
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113352999
    reference: chr 4
allele count: 156
allele frequency: 1.293982979146967e-3
allele num: 120558
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2296G>C
  hgvsp: ENSP00000398048.1:p.Gly766Arg
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1739G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2784G>C
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2296G>C
  hgvsp: ENSP00000177648.9:p.Gly766Arg
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2062G>C
  hgvsp: ENSP00000426044.2:p.Gly688Arg
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2590G>C
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 20269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8553
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10268
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 6.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly766Arg
num of homozygotes: 2
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

4-113353005-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113353005
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113353005
    reference: chr 4
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1745G>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2068G>T
  hgvsp: ENSP00000426044.2:p.Glu690Ter
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2302G>T
  hgvsp: ENSP00000177648.9:p.Glu768Ter
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2790G>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2302G>T
  hgvsp: ENSP00000398048.1:p.Glu768Ter
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2596G>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24128
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu768Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

4-113353016-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113353016
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113353016
    reference: chr 4
allele count: 1
allele frequency: 8.307165761185599e-6
allele num: 120378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2607A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2313A>G
  hgvsp: ENST00000177648.9:c.2313A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2313A>G
  hgvsp: ENST00000458497.1:c.2313A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2801A>G
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2079A>G
  hgvsp: ENST00000504176.2:c.2079A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1756A>G
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu771Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-113353022-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113353022
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113353022
    reference: chr 4
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2319C>A
  hgvsp: ENST00000458497.1:c.2319C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1762C>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2319C>A
  hgvsp: ENST00000177648.9:c.2319C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2085C>A
  hgvsp: ENST00000504176.2:c.2085C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2613C>A
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2807C>A
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15659
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly773Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

4-113353022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113353022
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 113353022
    reference: chr 4
allele count: 391
allele frequency: 3.249667553191489e-3
allele num: 120320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000426044
  ensembl transcript: ENST00000504176
  gene symbol: ALPK1
  hgvsc: ENST00000504176.2:c.2085C>T
  hgvsp: ENST00000504176.2:c.2085C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000177648
  ensembl transcript: ENST00000177648
  gene symbol: ALPK1
  hgvsc: ENST00000177648.9:c.2319C>T
  hgvsp: ENST00000177648.9:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000073331
  ensembl transcript: ENST00000504745
  gene symbol: ALPK1
  hgvsc: ENST00000504745.1:n.2807C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000424492
  ensembl transcript: ENST00000509722
  gene symbol: ALPK1
  hgvsc: ENST00000509722.1:c.*1762C>T
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000398048
  ensembl transcript: ENST00000458497
  gene symbol: ALPK1
  hgvsc: ENST00000458497.1:c.2319C>T
  hgvsp: ENST00000458497.1:c.2319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20917
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000073331
  ensembl protein: ENSP00000425559
  ensembl transcript: ENST00000505127
  gene symbol: ALPK1
  hgvsc: ENST00000505127.1:c.900+2613C>T
  variant of: http://identifiers.org/hgnc/20917
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 6.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 6.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 10278
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 20179
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 9.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.25e1
  variant carriers: 26
hgvs: p.Gly773Gly
num of homozygotes: 2
reference allele: C

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

DP
type: SiteQuality
SIO_000300: 3.858263e6

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1135
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.858453e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.442e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

FS
type: SiteQuality
SIO_000300: 5.688e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.049e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.843e0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 454
bin: 7.25e1
variant carriers: 17

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 343
bin: 8.25e1
variant carriers: 58

GenotypeQuality
all individuals: 1225
bin: 6.75e1
variant carriers: 27

GenotypeQuality
all individuals: 52980
bin: 9.75e1
variant carriers: 52578

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 47

GenotypeQuality
all individuals: 4735
bin: 6.25e1
variant carriers: 21

South Asian
type: Population
allele count: 9237
allele frequency: 5.594113372093024e-1
allele num: 16512
num of homozygotes: 2644

European (Non-Finnish)
type: Population
allele count: 44290
allele frequency: 6.638587445290485e-1
allele num: 66716
num of homozygotes: 14724

Latino
type: Population
allele count: 6388
allele frequency: 5.520221223643277e-1
allele num: 11572
num of homozygotes: 1805

East Asian
type: Population
allele count: 6190
allele frequency: 7.159380060143419e-1
allele num: 8646
num of homozygotes: 2212

European (Finnish)
type: Population
allele count: 4555
allele frequency: 6.888989715668482e-1
allele num: 6612
num of homozygotes: 1557

Other
type: Population
allele count: 598
allele frequency: 6.585903083700441e-1
allele num: 908
num of homozygotes: 196

African
type: Population
allele count: 7576
allele frequency: 7.280415145108591e-1
allele num: 10406
num of homozygotes: 2776

QD
type: SiteQuality
SIO_000300: 2.348e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.97e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

DP
type: SiteQuality
SIO_000300: 5.006665e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6707
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45974
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.598726e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 6.276e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

QD
type: SiteQuality
SIO_000300: 1.375e1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6722
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.73e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.313e0

FS
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 3.064e1

DP
type: SiteQuality
SIO_000300: 3.598581e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.25e0

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

GenotypeQuality
all individuals: 6716
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45973
bin: 9.75e1
variant carriers: 93

GenotypeQuality
all individuals: 1298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 89
allele frequency: 8.552758024216798e-3
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

DP
type: SiteQuality
SIO_000300: 3.59882e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.357e1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

GenotypeQuality
all individuals: 2214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.161e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.596815e6

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

GenotypeQuality
all individuals: 45935
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 1.434e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 3.595865e6

QD
type: SiteQuality
SIO_000300: 1.173e1

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 3.595865e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 1.434e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

GenotypeQuality
all individuals: 1083
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1292
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45935
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2203
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.32e-1

FS
type: SiteQuality
SIO_000300: 1.434e0

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.173e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 3.595865e6

GenotypeQuality
all individuals: 6763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2201
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45938
bin: 9.75e1
variant carriers: 208

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 198
allele frequency: 2.287959325167552e-2
allele num: 8654
num of homozygotes: 2

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

South Asian
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allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
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BaseQRankSum
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SIO_000300: -2.1e0

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ClippingRankSum
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DP
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

QD
type: SiteQuality
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DP
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.18e-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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variant carriers: 1

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele num: 16512
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
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SIO_000300: 1.037e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.287e0

DP
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SIO_000300: 3.591091e6

VQSLOD
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MQ
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SIO_000300: 5.939e1

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 7.24e-1

MQRankSum
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SIO_000300: 2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.827e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.98e-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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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

ClippingRankSum
type: SiteQuality
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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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.4542e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 4.944e1

VQSLOD
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 3.590481e6

MQRankSum
type: SiteQuality
SIO_000300: -5.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

Latino
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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: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.589669e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.51e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0594e1

MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
type: SiteQuality
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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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Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

Other
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MQRankSum
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SIO_000300: 4.26e-1

FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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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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Latino
type: Population
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 2.88e0

MQ
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MQRankSum
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QD
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FS
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 6614
num of homozygotes: 0

African
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allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

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

East Asian
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Other
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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FS
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MQ
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InbreedingCoeff
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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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Other
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num of homozygotes: 0

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

South Asian
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European (Non-Finnish)
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Latino
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African
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allele num: 10370
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.03e-1

FS
type: SiteQuality
SIO_000300: 8.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.27e0

DP
type: SiteQuality
SIO_000300: 3.58773e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.428e0

MQRankSum
type: SiteQuality
SIO_000300: -1.656e0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45890
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.587672e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.556e0

FS
type: SiteQuality
SIO_000300: 3.23e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.97e-1

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45960
bin: 9.75e1
variant carriers: 1226

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1057
allele frequency: 1.583947731223401e-2
allele num: 66732
num of homozygotes: 12

European (Finnish)
type: Population
allele count: 118
allele frequency: 1.784094345328092e-2
allele num: 6614
num of homozygotes: 3

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 17
allele frequency: 1.639028152718858e-3
allele num: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 29
allele frequency: 2.505183137525916e-3
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.689922480620155e-4
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.506607929515419e-3
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.187e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

DP
type: SiteQuality
SIO_000300: 3.594558e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.347e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

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

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2139
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -4.904e-1

DP
type: SiteQuality
SIO_000300: 3.571502e6

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.42e-1

GenotypeQuality
all individuals: 6508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 6.58e-1

DP
type: SiteQuality
SIO_000300: 3.571204e6

QD
type: SiteQuality
SIO_000300: 1.54e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.729e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.433e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

GenotypeQuality
all individuals: 6505
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45811
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.952e0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0097e1

VQSLOD
type: SiteQuality
SIO_000300: -2.136e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 2.916e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 3.571133e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.05e-1

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

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6511
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
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variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.570978e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: -2.143e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

FS
type: SiteQuality
SIO_000300: 1.3542e1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.028e0

QD
type: SiteQuality
SIO_000300: 1.105e1

GenotypeQuality
all individuals: 6558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 1279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.570682e6

MQ
type: SiteQuality
SIO_000300: 5.875e1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.641e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.546e0

VQSLOD
type: SiteQuality
SIO_000300: -1.178e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 1.947e0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 48
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variant carriers: 0

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

GenotypeQuality
all individuals: 1274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

FS
type: SiteQuality
SIO_000300: 3.866e0

QD
type: SiteQuality
SIO_000300: 1.066e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.711e0

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.570422e6

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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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: 1275
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 14
allele frequency: 1.61849710982659e-3
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.37e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

FS
type: SiteQuality
SIO_000300: 3.228e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 3.570466e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.232e0

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45800
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6564
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

DP
type: SiteQuality
SIO_000300: 3.569887e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

QD
type: SiteQuality
SIO_000300: 1.664e1

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45800
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 9.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.664e1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

DP
type: SiteQuality
SIO_000300: 3.569887e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45802
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 90
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6637
bin: 6.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99610253335332e-5
allele num: 66710
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.57006e6

FS
type: SiteQuality
SIO_000300: 1.957e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.009e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.339e1

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

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

GenotypeQuality
all individuals: 6747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 1.065e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.73e0

DP
type: SiteQuality
SIO_000300: 3.570587e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 3.57066e6

FS
type: SiteQuality
SIO_000300: 2.881e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e0

QD
type: SiteQuality
SIO_000300: 1.573e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
all individuals: 1270
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6766
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45806
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1254
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.91e-2

QD
type: SiteQuality
SIO_000300: 1.746e1

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.64e0

DP
type: SiteQuality
SIO_000300: 3.570658e6

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

GenotypeQuality
all individuals: 6764
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 8
allele frequency: 9.246417013407304e-4
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 3.57043e6

QD
type: SiteQuality
SIO_000300: 1.479e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46146
bin: 9.75e1
variant carriers: 2292

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 250
allele frequency: 2.159640635798203e-2
allele num: 11576
num of homozygotes: 2

Other
type: Population
allele count: 26
allele frequency: 2.863436123348018e-2
allele num: 908
num of homozygotes: 0

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

African
type: Population
allele count: 241
allele frequency: 2.31953801732435e-2
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1631
allele frequency: 2.445497346088104e-2
allele num: 66694
num of homozygotes: 21

South Asian
type: Population
allele count: 153
allele frequency: 9.265988372093024e-3
allele num: 16512
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.57030541276081e-3
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.597752e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 6.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.652e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45334
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.489e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 5.046e0

QD
type: SiteQuality
SIO_000300: 1.068e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.852e0

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

DP
type: SiteQuality
SIO_000300: 3.558677e6

GenotypeQuality
all individuals: 1295
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6689
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.227e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.793e0

VQSLOD
type: SiteQuality
SIO_000300: -1.223e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

DP
type: SiteQuality
SIO_000300: 3.555707e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

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

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45341
bin: 9.75e1
variant carriers: 6

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.50030001200048e-5
allele num: 66664
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

QD
type: SiteQuality
SIO_000300: 1.156e1

FS
type: SiteQuality
SIO_000300: 1.125e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.555804e6

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

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

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

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2157
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6766
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 3.555657e6

FS
type: SiteQuality
SIO_000300: 7.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

QD
type: SiteQuality
SIO_000300: 7.64e0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.323e0

DP
type: SiteQuality
SIO_000300: 3.555075e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.362e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.9e0

QD
type: SiteQuality
SIO_000300: 2.075e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45352
bin: 9.75e1
variant carriers: 21

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

GenotypeQuality
all individuals: 1287
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.150220515436081e-4
allele num: 66662
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

FS
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.555357e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6588
bin: 6.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.198e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

FS
type: SiteQuality
SIO_000300: 5.985e0

DP
type: SiteQuality
SIO_000300: 3.555221e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

GenotypeQuality
all individuals: 1285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 878
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 3.555221e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.198e0

FS
type: SiteQuality
SIO_000300: 5.985e0

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45357
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1226
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

MQ
type: SiteQuality
SIO_000300: 5.795e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.683e1

FS
type: SiteQuality
SIO_000300: 4.812e0

VQSLOD
type: SiteQuality
SIO_000300: -1.505e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 3.555376e6

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

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

GenotypeQuality
all individuals: 1238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45358
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.119e1

MQ
type: SiteQuality
SIO_000300: 5.86e1

DP
type: SiteQuality
SIO_000300: 3.555502e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.647e0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 21

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 118

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 64

GenotypeQuality
all individuals: 5310
bin: 6.25e1
variant carriers: 80

GenotypeQuality
all individuals: 51444
bin: 9.75e1
variant carriers: 50900

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 21

Other
type: Population
allele count: 565
allele frequency: 6.222466960352423e-1
allele num: 908
num of homozygotes: 176

Latino
type: Population
allele count: 6135
allele frequency: 5.301590044936052e-1
allele num: 11572
num of homozygotes: 1662

African
type: Population
allele count: 7321
allele frequency: 7.04891199691893e-1
allele num: 10386
num of homozygotes: 2602

East Asian
type: Population
allele count: 5639
allele frequency: 6.528131511924057e-1
allele num: 8638
num of homozygotes: 1846

European (Non-Finnish)
type: Population
allele count: 42483
allele frequency: 6.372896102727191e-1
allele num: 66662
num of homozygotes: 13530

European (Finnish)
type: Population
allele count: 4318
allele frequency: 6.530550514216575e-1
allele num: 6612
num of homozygotes: 1401

South Asian
type: Population
allele count: 9037
allele frequency: 5.474315483401987e-1
allele num: 16508
num of homozygotes: 2530

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.308e1

DP
type: SiteQuality
SIO_000300: 5.241508e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.698e0

VQSLOD
type: SiteQuality
SIO_000300: 4.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.02e-1

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

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

GenotypeQuality
all individuals: 15756
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7994
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24216
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.132e0

FS
type: SiteQuality
SIO_000300: 3.056e0

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.318939e6

QD
type: SiteQuality
SIO_000300: 1.247e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15744
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.723842862699339e-5
allele num: 10284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.657e1

FS
type: SiteQuality
SIO_000300: 3.965e0

MQRankSum
type: SiteQuality
SIO_000300: -1.053e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.843e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.197e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.81e-1

DP
type: SiteQuality
SIO_000300: 2.316396e6

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

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24248
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.944768572539868e-4
allele num: 10284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.316135e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.018e0

MQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.054e1

FS
type: SiteQuality
SIO_000300: 1.612e0

QD
type: SiteQuality
SIO_000300: 1.424e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 3315
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 4.077e0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: -5.955e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

MQ
type: SiteQuality
SIO_000300: 5.268e1

DP
type: SiteQuality
SIO_000300: 2.315126e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

QD
type: SiteQuality
SIO_000300: 6.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

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

GenotypeQuality
all individuals: 15741
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.742790335151988e-5
allele num: 10264
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

DP
type: SiteQuality
SIO_000300: 2.314615e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.252e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15737
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.94e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.39e-1

FS
type: SiteQuality
SIO_000300: 7.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.579e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 2.31401e6

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
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variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.018e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

DP
type: SiteQuality
SIO_000300: 2.310518e6

VQSLOD
type: SiteQuality
SIO_000300: -2.649e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.708e0

MQRankSum
type: SiteQuality
SIO_000300: -1.918e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
all individuals: 3303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
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variant carriers: 0

GenotypeQuality
all individuals: 7909
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15735
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1355
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66488
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 2.310715e6

FS
type: SiteQuality
SIO_000300: 7.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.007e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.68e1

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24037
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.689e0

QD
type: SiteQuality
SIO_000300: 1.63e1

MQRankSum
type: SiteQuality
SIO_000300: 7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.953e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.203804020705429e-4
allele num: 66456
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

DP
type: SiteQuality
SIO_000300: 2.309947e6

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.24e-2

QD
type: SiteQuality
SIO_000300: 1.417e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.737e0

MQRankSum
type: SiteQuality
SIO_000300: 6.45e-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
all individuals: 10
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GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.504936190705514e-4
allele num: 66448
num of homozygotes: 0

Other
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allele num: 908
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.071e0

GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
type: Population
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allele frequency: 1.213297743266198e-4
allele num: 16484
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African
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 908
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

DP
type: SiteQuality
SIO_000300: 2.308628e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

FS
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
SIO_000300: 1.218e1

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

GenotypeQuality
all individuals: 7870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
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GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.51616788101403e-5
allele num: 66428
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.36e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 3.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 2.308576e6

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

GenotypeQuality
all individuals: 254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 15717
bin: 9.75e1
variant carriers: 4

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.272e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 1.766e0

DP
type: SiteQuality
SIO_000300: 2.308543e6

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 7886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
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variant carriers: 0

GenotypeQuality
all individuals: 3285
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1349
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3476
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variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.917e0

QD
type: SiteQuality
SIO_000300: 8.27e0

FS
type: SiteQuality
SIO_000300: 6.189e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.607e-1

DP
type: SiteQuality
SIO_000300: 2.308892e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

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

GenotypeQuality
all individuals: 24209
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15710
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7874
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GenotypeQuality
all individuals: 3286
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variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.964250638381458e-4
allele num: 10182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 7.569e0

VQSLOD
type: SiteQuality
SIO_000300: -6.783e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.88e0

DP
type: SiteQuality
SIO_000300: 2.30848e6

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
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variant carriers: 0

GenotypeQuality
all individuals: 24275
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variant carriers: 0

GenotypeQuality
all individuals: 7855
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variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3481
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variant carriers: 0

GenotypeQuality
all individuals: 3276
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.13e0

DP
type: SiteQuality
SIO_000300: 2.307784e6

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.952e0

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 2223
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variant carriers: 0

GenotypeQuality
all individuals: 15703
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7856
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variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 3468
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variant carriers: 0

GenotypeQuality
all individuals: 3271
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017137340091721e-5
allele num: 66288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.348e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 1.778e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

DP
type: SiteQuality
SIO_000300: 2.306666e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.249e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

GenotypeQuality
all individuals: 188
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 7863
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 1348
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variant carriers: 0

GenotypeQuality
all individuals: 24267
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variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3266
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GenotypeQuality
all individuals: 15712
bin: 9.75e1
variant carriers: 39

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 3.140333660451423e-3
allele num: 10190
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.067961165048543e-4
allele num: 11536
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 2.306712e6

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 73
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variant carriers: 0

GenotypeQuality
all individuals: 190
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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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bin: 9.75e1
variant carriers: 154

GenotypeQuality
all individuals: 68
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.813542688910697e-5
allele num: 10190
num of homozygotes: 0

South Asian
type: Population
allele count: 153
allele frequency: 9.293002915451895e-3
allele num: 16464
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734003814808393e-4
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.308273e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 1.35e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 7855
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GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.41e0

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.907e1

FS
type: SiteQuality
SIO_000300: 3.072e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.666e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.948e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.3e-3

DP
type: SiteQuality
SIO_000300: 2.301954e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7843
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15625
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GenotypeQuality
all individuals: 716
bin: 2.25e1
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GenotypeQuality
all individuals: 35
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GenotypeQuality
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GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 3259
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

QD
type: SiteQuality
SIO_000300: 1.479e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.012e0

DP
type: SiteQuality
SIO_000300: 2.299824e6

MQRankSum
type: SiteQuality
SIO_000300: -1.343e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.500000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

GenotypeQuality
all individuals: 3454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1124
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23797
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447535e-5
allele num: 66140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

FS
type: SiteQuality
SIO_000300: 1.115e0

DP
type: SiteQuality
SIO_000300: 2.299103e6

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.265e1