2-73680508-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680508
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680508
    reference: chr 2
allele count: 32439
allele frequency: 2.695522834540983e-1
allele num: 120344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1685G>C
  hgvsp: ENSP00000399833.1:p.Arg562Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6851G>C
  hgvsp: ENSP00000366944.1:p.Arg2284Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6851G>C
  hgvsp: ENSP00000264448.6:p.Arg2284Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.657G>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6725G>C
  hgvsp: ENSP00000386627.1:p.Arg2242Pro
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 9.75e1
  variant carriers: 6239
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 2382
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 2.25e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 1789
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 6.75e1
  variant carriers: 2134
genotype depth: GenotypeDepth
  all individuals: 16934
  bin: 2.75e1
  variant carriers: 183
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 5.75e1
  variant carriers: 1732
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 663
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.25e1
  variant carriers: 1917
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 9.25e1
  variant carriers: 1573
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 8.25e1
  variant carriers: 2056
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.75e1
  variant carriers: 2201
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 959
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 1318
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 3.25e1
  variant carriers: 236
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 7.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 24736
  bin: 6.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 21
hgvs: p.Arg2284Pro
num of homozygotes: 6267
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

2-73680508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680508
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680508
    reference: chr 2
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.657G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6725G>A
  hgvsp: ENSP00000386627.1:p.Arg2242His
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6851G>A
  hgvsp: ENSP00000264448.6:p.Arg2284His
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1685G>A
  hgvsp: ENSP00000399833.1:p.Arg562His
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6851G>A
  hgvsp: ENSP00000366944.1:p.Arg2284His
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg2284His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-73680519-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680519
    reference: chr 2
allele count: 1
allele frequency: 8.303027283747654e-6
allele num: 120438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.668A>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6862A>T
  hgvsp: ENSP00000366944.1:p.Ile2288Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6862A>T
  hgvsp: ENSP00000264448.6:p.Ile2288Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1696A>T
  hgvsp: ENSP00000399833.1:p.Ile566Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6736A>T
  hgvsp: ENSP00000386627.1:p.Ile2246Phe
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile2288Phe
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-73680528-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680528
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680528
    reference: chr 2
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6745A>G
  hgvsp: ENSP00000386627.1:p.Ile2249Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.677A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6871A>G
  hgvsp: ENSP00000264448.6:p.Ile2291Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6871A>G
  hgvsp: ENSP00000366944.1:p.Ile2291Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1705A>G
  hgvsp: ENSP00000399833.1:p.Ile569Val
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile2291Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-73680540-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680540
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680540
    reference: chr 2
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6757C>G
  hgvsp: ENSP00000386627.1:p.Gln2253Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.689C>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6883C>G
  hgvsp: ENSP00000264448.6:p.Gln2295Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6883C>G
  hgvsp: ENSP00000366944.1:p.Gln2295Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1717C>G
  hgvsp: ENSP00000399833.1:p.Gln573Glu
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9462
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln2295Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-73680543-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680543
    reference: chr 2
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6886T>A
  hgvsp: ENSP00000264448.6:p.Ser2296Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.692T>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6760T>A
  hgvsp: ENSP00000386627.1:p.Ser2254Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6886T>A
  hgvsp: ENSP00000366944.1:p.Ser2296Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1720T>A
  hgvsp: ENSP00000399833.1:p.Ser574Thr
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser2296Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

2-73680544-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680544
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680545
    reference: chr 2
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6888dupT
  hgvsp: ENSP00000366944.1:p.Lys2297Ter
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1722dupT
  hgvsp: ENSP00000399833.1:p.Lys575Ter
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6888dupT
  hgvsp: ENSP00000264448.6:p.Lys2297Ter
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.694dupT
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6762dupT
  hgvsp: ENSP00000386627.1:p.Lys2255Ter
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42297
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys2297Ter
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

2-73680548-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680548
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680548
    reference: chr 2
allele count: 2
allele frequency: 1.660357308892874e-5
allele num: 120456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6765G>A
  hgvsp: ENST00000409009.1:c.6765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.697G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1725G>A
  hgvsp: ENST00000423048.1:c.1725G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6891G>A
  hgvsp: ENST00000377715.1:c.6891G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6891G>A
  hgvsp: ENST00000264448.6:c.6891G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys2297Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

2-73680556-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680556
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680556
    reference: chr 2
allele count: 1
allele frequency: 8.302200083022e-6
allele num: 120450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6773T>C
  hgvsp: ENSP00000386627.1:p.Val2258Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1733T>C
  hgvsp: ENSP00000399833.1:p.Val578Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6899T>C
  hgvsp: ENSP00000366944.1:p.Val2300Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6899T>C
  hgvsp: ENSP00000264448.6:p.Val2300Ala
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.705T>C
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val2300Ala
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-73680570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680570
    reference: chr 2
allele count: 3
allele frequency: 2.490825459557297e-5
allele num: 120442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6787C>T
  hgvsp: ENSP00000386627.1:p.Pro2263Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6913C>T
  hgvsp: ENSP00000366944.1:p.Pro2305Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.719C>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1747C>T
  hgvsp: ENSP00000399833.1:p.Pro583Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6913C>T
  hgvsp: ENSP00000264448.6:p.Pro2305Ser
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29884
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 515
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro2305Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-73680577-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680577
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680577
    reference: chr 2
allele count: 1
allele frequency: 8.30357884248111e-6
allele num: 120430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.726C>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1754C>T
  hgvsp: ENSP00000399833.1:p.Ser585Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6794C>T
  hgvsp: ENSP00000386627.1:p.Ser2265Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6920C>T
  hgvsp: ENSP00000366944.1:p.Ser2307Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6920C>T
  hgvsp: ENSP00000264448.6:p.Ser2307Phe
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2362
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser2307Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

2-73680580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680580
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680580
    reference: chr 2
allele count: 4
allele frequency: 3.321707357581797e-5
allele num: 120420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6797C>T
  hgvsp: ENSP00000386627.1:p.Thr2266Met
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6923C>T
  hgvsp: ENSP00000264448.6:p.Thr2308Met
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1757C>T
  hgvsp: ENSP00000399833.1:p.Thr586Met
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6923C>T
  hgvsp: ENSP00000366944.1:p.Thr2308Met
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.729C>T
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr2308Met
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

2-73680581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680581
    reference: chr 2
allele count: 1
allele frequency: 8.304544246611745e-6
allele num: 120416
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6924G>A
  hgvsp: ENST00000264448.6:c.6924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6924G>A
  hgvsp: ENST00000377715.1:c.6924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1758G>A
  hgvsp: ENST00000423048.1:c.1758G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.730G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6798G>A
  hgvsp: ENST00000409009.1:c.6798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr2308Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

2-73680585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680585
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680585
    reference: chr 2
allele count: 1
allele frequency: 8.302751531857658e-6
allele num: 120442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.734G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1762G>A
  hgvsp: ENSP00000399833.1:p.Val588Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6928G>A
  hgvsp: ENSP00000366944.1:p.Val2310Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6928G>A
  hgvsp: ENSP00000264448.6:p.Val2310Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6802G>A
  hgvsp: ENSP00000386627.1:p.Val2268Ile
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val2310Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-73680587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680587
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680587
    reference: chr 2
allele count: 2
allele frequency: 1.660384877214538e-5
allele num: 120454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.736A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1764A>G
  hgvsp: ENST00000423048.1:c.1764A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6930A>G
  hgvsp: ENST00000264448.6:c.6930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6804A>G
  hgvsp: ENST00000409009.1:c.6804A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6930A>G
  hgvsp: ENST00000377715.1:c.6930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16174
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42200
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val2310Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-73680591-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680591
    reference: chr 2
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6808A>C
  hgvsp: ENSP00000386627.1:p.Asn2270His
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1768A>C
  hgvsp: ENSP00000399833.1:p.Asn590His
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.740A>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6934A>C
  hgvsp: ENSP00000264448.6:p.Asn2312His
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6934A>C
  hgvsp: ENSP00000366944.1:p.Asn2312His
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn2312His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

2-73680591-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680591
    reference: chr 2
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6808A>G
  hgvsp: ENSP00000386627.1:p.Asn2270Asp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1768A>G
  hgvsp: ENSP00000399833.1:p.Asn590Asp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.740A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6934A>G
  hgvsp: ENSP00000366944.1:p.Asn2312Asp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6934A>G
  hgvsp: ENSP00000264448.6:p.Asn2312Asp
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn2312Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

2-73680602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680602
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680602
    reference: chr 2
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6945G>A
  hgvsp: ENST00000377715.1:c.6945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1779G>A
  hgvsp: ENST00000423048.1:c.1779G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6819G>A
  hgvsp: ENST00000409009.1:c.6819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.751G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6945G>A
  hgvsp: ENST00000264448.6:c.6945G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu2315Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-73680604-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680604
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680604
    reference: chr 2
allele count: 10
allele frequency: 8.301786544464369e-5
allele num: 120456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.753T>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6947T>C
  hgvsp: ENSP00000366944.1:p.Leu2316Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1781T>C
  hgvsp: ENSP00000399833.1:p.Leu594Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6821T>C
  hgvsp: ENSP00000386627.1:p.Leu2274Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6947T>C
  hgvsp: ENSP00000264448.6:p.Leu2316Pro
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16183
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8538
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu2316Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

2-73680611-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680611
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680611
    reference: chr 2
allele count: 3
allele frequency: 2.490618669677548e-5
allele num: 120452
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6954A>G
  hgvsp: ENST00000377715.1:c.6954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6828A>G
  hgvsp: ENST00000409009.1:c.6828A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1788A>G
  hgvsp: ENST00000423048.1:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.760A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6954A>G
  hgvsp: ENST00000264448.6:c.6954A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29826
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg2318Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

2-73680620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680620
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680620
    reference: chr 2
allele count: 1
allele frequency: 8.301510874979247e-6
allele num: 120460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6837C>T
  hgvsp: ENST00000409009.1:c.6837C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1797C>T
  hgvsp: ENST00000423048.1:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6963C>T
  hgvsp: ENST00000377715.1:c.6963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.769C>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6963C>T
  hgvsp: ENST00000264448.6:c.6963C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16150
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe2321Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

2-73680630-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680630
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680630
    reference: chr 2
allele count: 2
allele frequency: 1.660054117764239e-5
allele num: 120478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6847A>G
  hgvsp: ENSP00000386627.1:p.Ser2283Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6973A>G
  hgvsp: ENSP00000366944.1:p.Ser2325Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6973A>G
  hgvsp: ENSP00000264448.6:p.Ser2325Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1807A>G
  hgvsp: ENSP00000399833.1:p.Ser603Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.779A>G
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42024
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser2325Gly
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff

2-73680652-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680652
    reference: chr 2
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.6995A>G
  hgvsp: ENSP00000264448.6:p.Gln2332Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6869A>G
  hgvsp: ENSP00000386627.1:p.Gln2290Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1829A>G
  hgvsp: ENSP00000399833.1:p.Gln610Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.801A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.6995A>G
  hgvsp: ENSP00000366944.1:p.Gln2332Arg
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42162
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln2332Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

2-73680658-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680658
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680658
    reference: chr 2
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.807A>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7001A>T
  hgvsp: ENSP00000264448.6:p.Asp2334Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1835A>T
  hgvsp: ENSP00000399833.1:p.Asp612Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6875A>T
  hgvsp: ENSP00000386627.1:p.Asp2292Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7001A>T
  hgvsp: ENSP00000366944.1:p.Asp2334Val
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42153
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp2334Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-73680659-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680659
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680659
    reference: chr 2
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6876T>C
  hgvsp: ENST00000409009.1:c.6876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.808T>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7002T>C
  hgvsp: ENST00000377715.1:c.7002T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1836T>C
  hgvsp: ENST00000423048.1:c.1836T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7002T>C
  hgvsp: ENST00000264448.6:c.7002T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp2334Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-73680661-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680661
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680661
    reference: chr 2
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1838T>G
  hgvsp: ENSP00000399833.1:p.Ile613Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6878T>G
  hgvsp: ENSP00000386627.1:p.Ile2293Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7004T>G
  hgvsp: ENSP00000264448.6:p.Ile2335Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7004T>G
  hgvsp: ENSP00000366944.1:p.Ile2335Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.810T>G
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile2335Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-73680666-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680666
    reference: chr 2
allele count: 3
allele frequency: 2.491528802072952e-5
allele num: 120408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6883A>C
  hgvsp: ENSP00000386627.1:p.Thr2295Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.815A>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1843A>C
  hgvsp: ENSP00000399833.1:p.Thr615Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7009A>C
  hgvsp: ENSP00000366944.1:p.Thr2337Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7009A>C
  hgvsp: ENSP00000264448.6:p.Thr2337Pro
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42073
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr2337Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-73680667-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680667
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680667
    reference: chr 2
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.816C>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6884C>A
  hgvsp: ENSP00000386627.1:p.Thr2295Lys
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7010C>A
  hgvsp: ENSP00000366944.1:p.Thr2337Lys
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7010C>A
  hgvsp: ENSP00000264448.6:p.Thr2337Lys
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1844C>A
  hgvsp: ENSP00000399833.1:p.Thr615Lys
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr2337Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-73680667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680667
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680667
    reference: chr 2
allele count: 2
allele frequency: 1.661074382910867e-5
allele num: 120404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1844C>T
  hgvsp: ENSP00000399833.1:p.Thr615Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7010C>T
  hgvsp: ENSP00000366944.1:p.Thr2337Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7010C>T
  hgvsp: ENSP00000264448.6:p.Thr2337Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6884C>T
  hgvsp: ENSP00000386627.1:p.Thr2295Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.816C>T
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr2337Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-73680671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680671
    reference: chr 2
allele count: 3
allele frequency: 2.4919013207077e-5
allele num: 120390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6888G>A
  hgvsp: ENST00000409009.1:c.6888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.820G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7014G>A
  hgvsp: ENST00000264448.6:c.7014G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1848G>A
  hgvsp: ENST00000423048.1:c.1848G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7014G>A
  hgvsp: ENST00000377715.1:c.7014G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16104
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29769
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln2338Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-73680673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680673
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680673
    reference: chr 2
allele count: 2
allele frequency: 1.661101975050248e-5
allele num: 120402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6890C>T
  hgvsp: ENSP00000386627.1:p.Thr2297Met
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.822C>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7016C>T
  hgvsp: ENSP00000366944.1:p.Thr2339Met
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1850C>T
  hgvsp: ENSP00000399833.1:p.Thr617Met
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7016C>T
  hgvsp: ENSP00000264448.6:p.Thr2339Met
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr2339Met
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

2-73680674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680674
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680674
    reference: chr 2
allele count: 2
allele frequency: 1.661046791688122e-5
allele num: 120406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7017G>A
  hgvsp: ENST00000377715.1:c.7017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.823G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7017G>A
  hgvsp: ENST00000264448.6:c.7017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1851G>A
  hgvsp: ENST00000423048.1:c.1851G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6891G>A
  hgvsp: ENST00000409009.1:c.6891G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8486
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr2339Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-73680686-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680686
    reference: chr 2
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7029C>G
  hgvsp: ENSP00000264448.6:p.Cys2343Trp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7029C>G
  hgvsp: ENSP00000366944.1:p.Cys2343Trp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.835C>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6903C>G
  hgvsp: ENSP00000386627.1:p.Cys2301Trp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1863C>G
  hgvsp: ENSP00000399833.1:p.Cys621Trp
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8469
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys2343Trp
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

2-73680687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680687
    reference: chr 2
allele count: 2
allele frequency: 1.662482751741451e-5
allele num: 120302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7030C>T
  hgvsp: ENSP00000366944.1:p.Arg2344Trp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1864C>T
  hgvsp: ENSP00000399833.1:p.Arg622Trp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6904C>T
  hgvsp: ENSP00000386627.1:p.Arg2302Trp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7030C>T
  hgvsp: ENSP00000264448.6:p.Arg2344Trp
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.836C>T
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 41901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg2344Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-73680688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680688
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680688
    reference: chr 2
allele count: 2
allele frequency: 1.662620955674525e-5
allele num: 120292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7031G>A
  hgvsp: ENSP00000264448.6:p.Arg2344Gln
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7031G>A
  hgvsp: ENSP00000366944.1:p.Arg2344Gln
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1865G>A
  hgvsp: ENSP00000399833.1:p.Arg622Gln
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.837G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6905G>A
  hgvsp: ENSP00000386627.1:p.Arg2302Gln
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg2344Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

2-73680691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680691
    reference: chr 2
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1868G>A
  hgvsp: ENSP00000399833.1:p.Arg623Lys
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6908G>A
  hgvsp: ENSP00000386627.1:p.Arg2303Lys
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7034G>A
  hgvsp: ENSP00000264448.6:p.Arg2345Lys
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7034G>A
  hgvsp: ENSP00000366944.1:p.Arg2345Lys
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.840G>A
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg2345Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-73680694-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680694
    reference: chr 2
allele count: 8
allele frequency: 6.650483822698102e-5
allele num: 120292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1871G>T
  hgvsp: ENSP00000399833.1:p.Gly624Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6911G>T
  hgvsp: ENSP00000386627.1:p.Gly2304Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.843G>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7037G>T
  hgvsp: ENSP00000366944.1:p.Gly2346Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7037G>T
  hgvsp: ENSP00000264448.6:p.Gly2346Val
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8449
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly2346Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-73680721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680721
    reference: chr 2
allele count: 2
allele frequency: 1.663450662053363e-5
allele num: 120232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7064C>T
  hgvsp: ENSP00000366944.1:p.Ser2355Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.870C>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7064C>T
  hgvsp: ENSP00000264448.6:p.Ser2355Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1898C>T
  hgvsp: ENSP00000399833.1:p.Ser633Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6938C>T
  hgvsp: ENSP00000386627.1:p.Ser2313Leu
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser2355Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-73680727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680727
    reference: chr 2
allele count: 1
allele frequency: 8.316838270762986e-6
allele num: 120238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.876C>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1904C>T
  hgvsp: ENSP00000399833.1:p.Thr635Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7070C>T
  hgvsp: ENSP00000264448.6:p.Thr2357Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6944C>T
  hgvsp: ENSP00000386627.1:p.Thr2315Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7070C>T
  hgvsp: ENSP00000366944.1:p.Thr2357Ile
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr2357Ile
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-73680743-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680743
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680743
    reference: chr 2
allele count: 1
allele frequency: 8.318221896887321e-6
allele num: 120218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6960A>G
  hgvsp: ENST00000409009.1:c.6960A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7086A>G
  hgvsp: ENST00000377715.1:c.7086A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7086A>G
  hgvsp: ENST00000264448.6:c.7086A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.892A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1920A>G
  hgvsp: ENST00000423048.1:c.1920A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu2362Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-73680745-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680745
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680745
    reference: chr 2
allele count: 4
allele frequency: 3.327344113928263e-5
allele num: 120216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1922A>C
  hgvsp: ENSP00000399833.1:p.Gln641Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.894A>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7088A>C
  hgvsp: ENSP00000366944.1:p.Gln2363Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7088A>C
  hgvsp: ENSP00000264448.6:p.Gln2363Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6962A>C
  hgvsp: ENSP00000386627.1:p.Gln2321Pro
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29549
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln2363Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-73680757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680757
    reference: chr 2
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.906G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6974G>A
  hgvsp: ENSP00000386627.1:p.Ser2325Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1934G>A
  hgvsp: ENSP00000399833.1:p.Ser645Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7100G>A
  hgvsp: ENSP00000366944.1:p.Ser2367Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7100G>A
  hgvsp: ENSP00000264448.6:p.Ser2367Asn
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser2367Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-73680768-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680768
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680768
    reference: chr 2
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6985A>G
  hgvsp: ENSP00000386627.1:p.Met2329Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1945A>G
  hgvsp: ENSP00000399833.1:p.Met649Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7111A>G
  hgvsp: ENSP00000366944.1:p.Met2371Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.917A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7111A>G
  hgvsp: ENSP00000264448.6:p.Met2371Val
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met2371Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-73680770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680770
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680770
    reference: chr 2
allele count: 1
allele frequency: 8.313934153641504e-6
allele num: 120280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1947G>A
  hgvsp: ENSP00000399833.1:p.Met649Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7113G>A
  hgvsp: ENSP00000366944.1:p.Met2371Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7113G>A
  hgvsp: ENSP00000264448.6:p.Met2371Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.919G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6987G>A
  hgvsp: ENSP00000386627.1:p.Met2329Ile
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8432
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met2371Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-73680776-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680776
    reference: chr 2
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.925A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7119A>G
  hgvsp: ENST00000377715.1:c.7119A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1953A>G
  hgvsp: ENST00000423048.1:c.1953A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7119A>G
  hgvsp: ENST00000264448.6:c.7119A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6993A>G
  hgvsp: ENST00000409009.1:c.6993A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu2373Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-73680780-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680780
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680780
    reference: chr 2
allele count: 1
allele frequency: 8.307993951780402e-6
allele num: 120366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.6997G>C
  hgvsp: ENSP00000386627.1:p.Glu2333Gln
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7123G>C
  hgvsp: ENSP00000264448.6:p.Glu2375Gln
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1957G>C
  hgvsp: ENSP00000399833.1:p.Glu653Gln
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.929G>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7123G>C
  hgvsp: ENSP00000366944.1:p.Glu2375Gln
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu2375Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-73680786-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680786
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680786
    reference: chr 2
allele count: 3
allele frequency: 2.491694352159469e-5
allele num: 120400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7129C>G
  hgvsp: ENSP00000366944.1:p.Leu2377Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1963C>G
  hgvsp: ENSP00000399833.1:p.Leu655Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7129C>G
  hgvsp: ENSP00000264448.6:p.Leu2377Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7003C>G
  hgvsp: ENSP00000386627.1:p.Leu2335Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.935C>G
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu2377Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

2-73680787-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680787
    reference: chr 2
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1964T>C
  hgvsp: ENSP00000399833.1:p.Leu655Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7130T>C
  hgvsp: ENSP00000264448.6:p.Leu2377Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.936T>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7004T>C
  hgvsp: ENSP00000386627.1:p.Leu2335Pro
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7130T>C
  hgvsp: ENSP00000366944.1:p.Leu2377Pro
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8450
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu2377Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-73680787-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680787
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680787
    reference: chr 2
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1964T>G
  hgvsp: ENSP00000399833.1:p.Leu655Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7130T>G
  hgvsp: ENSP00000366944.1:p.Leu2377Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7004T>G
  hgvsp: ENSP00000386627.1:p.Leu2335Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7130T>G
  hgvsp: ENSP00000264448.6:p.Leu2377Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.936T>G
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu2377Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

2-73680794-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680794
    reference: chr 2
allele count: 17
allele frequency: 1.410858631965077e-4
allele num: 120494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.943A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7137A>G
  hgvsp: ENST00000264448.6:c.7137A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7137A>G
  hgvsp: ENST00000377715.1:c.7137A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7011A>G
  hgvsp: ENST00000409009.1:c.7011A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1971A>G
  hgvsp: ENST00000423048.1:c.1971A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln2379Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

2-73680799-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680799
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680799
    reference: chr 2
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7142A>G
  hgvsp: ENSP00000366944.1:p.Gln2381Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7016A>G
  hgvsp: ENSP00000386627.1:p.Gln2339Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.948A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7142A>G
  hgvsp: ENSP00000264448.6:p.Gln2381Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1976A>G
  hgvsp: ENSP00000399833.1:p.Gln659Arg
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln2381Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-73680801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680801
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680801
    reference: chr 2
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.950G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7144G>A
  hgvsp: ENSP00000264448.6:p.Ala2382Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7144G>A
  hgvsp: ENSP00000366944.1:p.Ala2382Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1978G>A
  hgvsp: ENSP00000399833.1:p.Ala660Thr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7018G>A
  hgvsp: ENSP00000386627.1:p.Ala2340Thr
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42843
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala2382Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-73680819-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680819
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680819
    reference: chr 2
allele count: 2
allele frequency: 1.657412778652524e-5
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7036A>C
  hgvsp: ENST00000409009.1:c.7036A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7162A>C
  hgvsp: ENST00000264448.6:c.7162A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.968A>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7162A>C
  hgvsp: ENST00000377715.1:c.7162A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.1996A>C
  hgvsp: ENST00000423048.1:c.1996A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg2388Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

2-73680826-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680826
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680826
    reference: chr 2
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7043A>T
  hgvsp: ENSP00000386627.1:p.Glu2348Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.975A>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7169A>T
  hgvsp: ENSP00000366944.1:p.Glu2390Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2003A>T
  hgvsp: ENSP00000399833.1:p.Glu668Val
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7169A>T
  hgvsp: ENSP00000264448.6:p.Glu2390Val
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu2390Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

2-73680838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680838
    reference: chr 2
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2015G>A
  hgvsp: ENSP00000399833.1:p.Cys672Tyr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7181G>A
  hgvsp: ENSP00000264448.6:p.Cys2394Tyr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7181G>A
  hgvsp: ENSP00000366944.1:p.Cys2394Tyr
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.987G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7055G>A
  hgvsp: ENSP00000386627.1:p.Cys2352Tyr
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43028
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys2394Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-73680847-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680847
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680847
    reference: chr 2
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.996C>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7064C>A
  hgvsp: ENSP00000386627.1:p.Thr2355Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2024C>A
  hgvsp: ENSP00000399833.1:p.Thr675Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7190C>A
  hgvsp: ENSP00000366944.1:p.Thr2397Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7190C>A
  hgvsp: ENSP00000264448.6:p.Thr2397Asn
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr2397Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-73680847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680847
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680847
    reference: chr 2
allele count: 4
allele frequency: 3.314001657000828e-5
allele num: 120700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.996C>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7064C>T
  hgvsp: ENSP00000386627.1:p.Thr2355Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7190C>T
  hgvsp: ENSP00000264448.6:p.Thr2397Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2024C>T
  hgvsp: ENSP00000399833.1:p.Thr675Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7190C>T
  hgvsp: ENSP00000366944.1:p.Thr2397Ile
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr2397Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-73680853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680853
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680853
    reference: chr 2
allele count: 8
allele frequency: 6.628332808590319e-5
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2030G>A
  hgvsp: ENSP00000399833.1:p.Gly677Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7196G>A
  hgvsp: ENSP00000366944.1:p.Gly2399Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1002G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7196G>A
  hgvsp: ENSP00000264448.6:p.Gly2399Glu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7070G>A
  hgvsp: ENSP00000386627.1:p.Gly2357Glu
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly2399Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-73680881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680881
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680881
    reference: chr 2
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2058T>C
  hgvsp: ENST00000423048.1:c.2058T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7098T>C
  hgvsp: ENST00000409009.1:c.7098T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1030T>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7224T>C
  hgvsp: ENST00000377715.1:c.7224T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7224T>C
  hgvsp: ENST00000264448.6:c.7224T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr2408Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-73680890-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680890
    reference: chr 2
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7233A>C
  hgvsp: ENSP00000264448.6:p.Lys2411Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1039A>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7107A>C
  hgvsp: ENSP00000386627.1:p.Lys2369Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7233A>C
  hgvsp: ENSP00000366944.1:p.Lys2411Asn
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2067A>C
  hgvsp: ENSP00000399833.1:p.Lys689Asn
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys2411Asn
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-73680899-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680899
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680899
    reference: chr 2
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7242A>G
  hgvsp: ENST00000377715.1:c.7242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2076A>G
  hgvsp: ENST00000423048.1:c.2076A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1048A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7242A>G
  hgvsp: ENST00000264448.6:c.7242A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7116A>G
  hgvsp: ENST00000409009.1:c.7116A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43114
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser2414Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-73680904-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680904
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680904
    reference: chr 2
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1053G>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7247G>T
  hgvsp: ENSP00000264448.6:p.Ser2416Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7121G>T
  hgvsp: ENSP00000386627.1:p.Ser2374Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2081G>T
  hgvsp: ENSP00000399833.1:p.Ser694Ile
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7247G>T
  hgvsp: ENSP00000366944.1:p.Ser2416Ile
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser2416Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

2-73680905-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680905
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680905
    reference: chr 2
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2082T>C
  hgvsp: ENST00000423048.1:c.2082T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7248T>C
  hgvsp: ENST00000264448.6:c.7248T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1054T>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7122T>C
  hgvsp: ENST00000409009.1:c.7122T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7248T>C
  hgvsp: ENST00000377715.1:c.7248T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser2416Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-73680912-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680912
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680912
    reference: chr 2
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1061A>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7129A>C
  hgvsp: ENSP00000386627.1:p.Ser2377Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7255A>C
  hgvsp: ENSP00000366944.1:p.Ser2419Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7255A>C
  hgvsp: ENSP00000264448.6:p.Ser2419Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2089A>C
  hgvsp: ENSP00000399833.1:p.Ser697Arg
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser2419Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-73680922-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680922
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680922
    reference: chr 2
allele count: 254
allele frequency: 2.103972698055068e-3
allele num: 120724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7265A>G
  hgvsp: ENSP00000366944.1:p.Asn2422Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1071A>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2099A>G
  hgvsp: ENSP00000399833.1:p.Asn700Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7139A>G
  hgvsp: ENSP00000386627.1:p.Asn2380Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7265A>G
  hgvsp: ENSP00000264448.6:p.Asn2422Ser
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 251
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8457
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn2422Ser
num of homozygotes: 3
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-73680929-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680929
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680929
    reference: chr 2
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7272C>G
  hgvsp: ENST00000264448.6:c.7272C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1078C>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7272C>G
  hgvsp: ENST00000377715.1:c.7272C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2106C>G
  hgvsp: ENST00000423048.1:c.2106C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7146C>G
  hgvsp: ENST00000409009.1:c.7146C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser2424Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

2-73680929-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680929
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680929
    reference: chr 2
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7272C>T
  hgvsp: ENST00000264448.6:c.7272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1078C>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7146C>T
  hgvsp: ENST00000409009.1:c.7146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7272C>T
  hgvsp: ENST00000377715.1:c.7272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2106C>T
  hgvsp: ENST00000423048.1:c.2106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43242
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser2424Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-73680930-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680930
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680930
    reference: chr 2
allele count: 4
allele frequency: 3.313342831582784e-5
allele num: 120724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7147T>G
  hgvsp: ENSP00000386627.1:p.Cys2383Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7273T>G
  hgvsp: ENSP00000366944.1:p.Cys2425Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2107T>G
  hgvsp: ENSP00000399833.1:p.Cys703Gly
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1079T>G
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7273T>G
  hgvsp: ENSP00000264448.6:p.Cys2425Gly
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8491
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Cys2425Gly
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

2-73680931-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680931
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680931
    reference: chr 2
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7148G>C
  hgvsp: ENSP00000386627.1:p.Cys2383Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7274G>C
  hgvsp: ENSP00000264448.6:p.Cys2425Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1080G>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7274G>C
  hgvsp: ENSP00000366944.1:p.Cys2425Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2108G>C
  hgvsp: ENSP00000399833.1:p.Cys703Ser
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys2425Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-73680931-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680931
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680931
    reference: chr 2
allele count: 16
allele frequency: 1.325381047051027e-4
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7274G>T
  hgvsp: ENSP00000366944.1:p.Cys2425Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7274G>T
  hgvsp: ENSP00000264448.6:p.Cys2425Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7148G>T
  hgvsp: ENSP00000386627.1:p.Cys2383Phe
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1080G>T
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2108G>T
  hgvsp: ENSP00000399833.1:p.Cys703Phe
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys2425Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

2-73680934-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680934
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680934
    reference: chr 2
allele count: 6
allele frequency: 4.97083775185578e-5
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7277C>T
  hgvsp: ENSP00000366944.1:p.Ser2426Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7151C>T
  hgvsp: ENSP00000386627.1:p.Ser2384Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7277C>T
  hgvsp: ENSP00000264448.6:p.Ser2426Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2111C>T
  hgvsp: ENSP00000399833.1:p.Ser704Leu
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1083C>T
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43220
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser2426Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-73680935-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680935
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680935
    reference: chr 2
allele count: 3
allele frequency: 2.484965955966403e-5
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7278G>A
  hgvsp: ENST00000377715.1:c.7278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1084G>A
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2112G>A
  hgvsp: ENST00000423048.1:c.2112G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7278G>A
  hgvsp: ENST00000264448.6:c.7278G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7152G>A
  hgvsp: ENST00000409009.1:c.7152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser2426Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-73680942-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680942
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680942
    reference: chr 2
allele count: 6
allele frequency: 4.970178926441352e-5
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7285A>C
  hgvsp: ENSP00000366944.1:p.Ser2429Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7285A>C
  hgvsp: ENSP00000264448.6:p.Ser2429Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1091A>C
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2119A>C
  hgvsp: ENSP00000399833.1:p.Ser707Arg
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7159A>C
  hgvsp: ENSP00000386627.1:p.Ser2387Arg
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43219
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser2429Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

2-73680949-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73680949
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 73680949
    reference: chr 2
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000399833
  ensembl transcript: ENST00000423048
  gene symbol: ALMS1
  hgvsc: ENST00000423048.1:c.2126T>C
  hgvsp: ENSP00000399833.1:p.Leu709Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000264448
  ensembl transcript: ENST00000264448
  gene symbol: ALMS1
  hgvsc: ENST00000264448.6:c.7292T>C
  hgvsp: ENSP00000264448.6:p.Leu2431Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000366944
  ensembl transcript: ENST00000377715
  gene symbol: ALMS1
  hgvsc: ENST00000377715.1:c.7292T>C
  hgvsp: ENSP00000366944.1:p.Leu2431Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116127
  ensembl protein: ENSP00000386627
  ensembl transcript: ENST00000409009
  gene symbol: ALMS1
  hgvsc: ENST00000409009.1:c.7166T>C
  hgvsp: ENSP00000386627.1:p.Leu2389Ser
  variant of: http://identifiers.org/hgnc/428
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116127
  ensembl transcript: ENST00000484298
  gene symbol: ALMS1
  hgvsc: ENST00000484298.1:n.1098T>C
  variant of: http://identifiers.org/hgnc/428
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8501
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu2431Ser
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 20

GenotypeQuality
all individuals: 4752
bin: 6.75e1
variant carriers: 29

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 25

GenotypeQuality
all individuals: 26349
bin: 9.75e1
variant carriers: 25892

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 11

GenotypeQuality
all individuals: 658
bin: 8.25e1
variant carriers: 35

South Asian
type: Population
allele count: 2626
allele frequency: 1.59209409482236e-1
allele num: 16494
num of homozygotes: 242

African
type: Population
allele count: 7613
allele frequency: 7.790626279164962e-1
allele num: 9772
num of homozygotes: 2991

Other
type: Population
allele count: 206
allele frequency: 2.304250559284116e-1
allele num: 894
num of homozygotes: 27

Latino
type: Population
allele count: 4827
allele frequency: 4.201775766016713e-1
allele num: 11488
num of homozygotes: 998

European (Finnish)
type: Population
allele count: 1508
allele frequency: 2.283464566929134e-1
allele num: 6604
num of homozygotes: 172

East Asian
type: Population
allele count: 67
allele frequency: 7.805219012115564e-3
allele num: 8584
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 15592
allele frequency: 2.344379623503939e-1
allele num: 66508
num of homozygotes: 1836

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

QD
type: SiteQuality
SIO_000300: 2.045e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.496e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.93e0

DP
type: SiteQuality
SIO_000300: 3.020076e6

GenotypeQuality
all individuals: 26349
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.020076e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.496e-1

QD
type: SiteQuality
SIO_000300: 2.045e1

GenotypeQuality
all individuals: 222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2666
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.659415e6

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

GenotypeQuality
all individuals: 1271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.394e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.971e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

DP
type: SiteQuality
SIO_000300: 1.659316e6

FS
type: SiteQuality
SIO_000300: 1.2049e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.548e0

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

GenotypeQuality
all individuals: 526
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8536
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 1.899e1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

DP
type: SiteQuality
SIO_000300: 1.659709e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

GenotypeQuality
all individuals: 226
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8540
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42272
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.659543e6

QD
type: SiteQuality
SIO_000300: 1.185e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

FS
type: SiteQuality
SIO_000300: 5.82e-1

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

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

GenotypeQuality
all individuals: 90
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8539
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

QD
type: SiteQuality
SIO_000300: 1.408e1

DP
type: SiteQuality
SIO_000300: 1.659498e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

FS
type: SiteQuality
SIO_000300: 4.79e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

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

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 9.75e1
variant carriers: 2

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003453972067878e-5
allele num: 66590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.849e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 6.313e0

VQSLOD
type: SiteQuality
SIO_000300: -3.437e-1

DP
type: SiteQuality
SIO_000300: 1.659381e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8532
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.29e0

FS
type: SiteQuality
SIO_000300: 1.732e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

MQ
type: SiteQuality
SIO_000300: 5.759e1

DP
type: SiteQuality
SIO_000300: 1.65913e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.09e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

GenotypeQuality
all individuals: 2361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42115
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.490807540144287e-4
allele num: 8594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.4e-1

FS
type: SiteQuality
SIO_000300: 4.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

DP
type: SiteQuality
SIO_000300: 1.658193e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.538e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2645
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.26e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.657695e6

MQRankSum
type: SiteQuality
SIO_000300: 2.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.931e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

GenotypeQuality
all individuals: 247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8472
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42121
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.741553465691397e-4
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003634397621121e-5
allele num: 66586
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.657723e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 5.035e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

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

GenotypeQuality
all individuals: 2365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.73e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 3.297e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.465e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

DP
type: SiteQuality
SIO_000300: 1.657631e6

GenotypeQuality
all individuals: 2359
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.387e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 4.714e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.854e1

DP
type: SiteQuality
SIO_000300: 1.657022e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.275e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.74e-1

GenotypeQuality
all individuals: 2639
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002822653294096e-5
allele num: 66604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.394e1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 8.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

DP
type: SiteQuality
SIO_000300: 1.65713e6

GenotypeQuality
all individuals: 226
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8509
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.019e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.65729e6

FS
type: SiteQuality
SIO_000300: 4.062e0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 8509
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.65729e6

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.019e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 4.062e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

QD
type: SiteQuality
SIO_000300: 1.381e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

GenotypeQuality
all individuals: 8519
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1273
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.706e0

QD
type: SiteQuality
SIO_000300: 1.139e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.586e0

DP
type: SiteQuality
SIO_000300: 1.657499e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.023541453428864e-3
allele num: 9770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

DP
type: SiteQuality
SIO_000300: 1.65755e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41969
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818402230573403e-4
allele num: 16498
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.657565e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.85e-1

FS
type: SiteQuality
SIO_000300: 1.1294e1

QD
type: SiteQuality
SIO_000300: 1.348e1

GenotypeQuality
all individuals: 8522
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1493
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 536
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42142
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.023331968890708e-4
allele num: 9772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.658512e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

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

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8543
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

DP
type: SiteQuality
SIO_000300: 1.65859e6

QD
type: SiteQuality
SIO_000300: 1.541e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 534
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e0

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.09e-1

DP
type: SiteQuality
SIO_000300: 1.658588e6

MQ
type: SiteQuality
SIO_000300: 5.918e1

QD
type: SiteQuality
SIO_000300: 1.201e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 1.193e0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 534
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

DP
type: SiteQuality
SIO_000300: 1.658182e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.645999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

QD
type: SiteQuality
SIO_000300: 1.603e1

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.55e-1

MQ
type: SiteQuality
SIO_000300: 5.886e1

GenotypeQuality
all individuals: 541
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2652
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.515e1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.098e0

VQSLOD
type: SiteQuality
SIO_000300: 9.07e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 1.307e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.658173e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 1309
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1512
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42133
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.657818e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

FS
type: SiteQuality
SIO_000300: 9.23e-1

QD
type: SiteQuality
SIO_000300: 1.017e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.042e0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.490807540144287e-4
allele num: 8594
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.657065e6

QD
type: SiteQuality
SIO_000300: 1.164e1

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

GenotypeQuality
all individuals: 299
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42096
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 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: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.025430680885972e-4
allele num: 9752
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

DP
type: SiteQuality
SIO_000300: 1.657059e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

FS
type: SiteQuality
SIO_000300: 4.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.321e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.352e0

GenotypeQuality
all individuals: 2382
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
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: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.352e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

DP
type: SiteQuality
SIO_000300: 1.657059e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

FS
type: SiteQuality
SIO_000300: 4.043e0

QD
type: SiteQuality
SIO_000300: 1.321e1

GenotypeQuality
all individuals: 8495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 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: 11486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.052966536645453e-4
allele num: 9742
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.013e0

QD
type: SiteQuality
SIO_000300: 1.57e1

FS
type: SiteQuality
SIO_000300: 3.947e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

DP
type: SiteQuality
SIO_000300: 1.656293e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.341e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

DP
type: SiteQuality
SIO_000300: 1.656292e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.425e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.994e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 1292
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
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: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.69e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.613e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.656226e6

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.37e-1

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2361
bin: 7.75e1
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GenotypeQuality
all individuals: 1500
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GenotypeQuality
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GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.3745e1

DP
type: SiteQuality
SIO_000300: 1.653482e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.079e0

QD
type: SiteQuality
SIO_000300: 1.501e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.543e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 1284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 9.75e1
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GenotypeQuality
all individuals: 71
bin: 4.25e1
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GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8470
bin: 6.75e1
variant carriers: 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: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-3

FS
type: SiteQuality
SIO_000300: 2.502e0

DP
type: SiteQuality
SIO_000300: 1.653007e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.22e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

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

GenotypeQuality
all individuals: 2620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8457
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

FS
type: SiteQuality
SIO_000300: 3.597e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

DP
type: SiteQuality
SIO_000300: 1.652558e6

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

GenotypeQuality
all individuals: 2350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8446
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 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: 9698
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.651619e6

MQ
type: SiteQuality
SIO_000300: 5.937e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.523e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 1.8811e1

VQSLOD
type: SiteQuality
SIO_000300: -2.503e0

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
all individuals: 1500
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2353
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.027550711474417e-4
allele num: 6606
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.022556390977444e-5
allele num: 66500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.245e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.838e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

DP
type: SiteQuality
SIO_000300: 1.651405e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.477e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-3

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008514094888535e-5
allele num: 66478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.26e1

VQSLOD
type: SiteQuality
SIO_000300: -2.109e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.951e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.648596e6

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

GenotypeQuality
all individuals: 2602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1483
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 181
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.648384e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.238e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -1.641e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.648378e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: -8.367e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-1

FS
type: SiteQuality
SIO_000300: 2.589e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.124e0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.019020103527146e-5
allele num: 66456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
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: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.912e0

MQRankSum
type: SiteQuality
SIO_000300: -4.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.648705e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 1.325e1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8432
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GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.415e0

MQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 6.205e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.143e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

DP
type: SiteQuality
SIO_000300: 1.650449e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

GenotypeQuality
all individuals: 1480
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variant carriers: 1

GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 85
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GenotypeQuality
all individuals: 42310
bin: 6.25e1
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GenotypeQuality
all individuals: 2595
bin: 7.25e1
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GenotypeQuality
all individuals: 8433
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 1.652263e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.346e0

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

MQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

QD
type: SiteQuality
SIO_000300: 1.315e1

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 2595
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 533
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GenotypeQuality
all individuals: 522
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GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.504e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.419e1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.652633e6

GenotypeQuality
all individuals: 2351
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
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variant carriers: 0

GenotypeQuality
all individuals: 42484
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GenotypeQuality
all individuals: 2606
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GenotypeQuality
all individuals: 523
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GenotypeQuality
all individuals: 1479
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.034554107179805e-4
allele num: 9666
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: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
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: 898
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.46e0

DP
type: SiteQuality
SIO_000300: 1.653771e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

FS
type: SiteQuality
SIO_000300: 1.5678e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.468e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
all individuals: 292
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.033912324234905e-4
allele num: 9672
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

DP
type: SiteQuality
SIO_000300: 1.654445e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQ
type: SiteQuality
SIO_000300: 6.036e1

GenotypeQuality
all individuals: 2602
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8450
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
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: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.50815976918222e-5
allele num: 66546
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

DP
type: SiteQuality
SIO_000300: 1.655296e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.016e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

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

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.214e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

DP
type: SiteQuality
SIO_000300: 1.655273e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 2.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

QD
type: SiteQuality
SIO_000300: 1.437e1

GenotypeQuality
all individuals: 1477
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8450
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

DP
type: SiteQuality
SIO_000300: 1.655273e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.214e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-1

FS
type: SiteQuality
SIO_000300: 2.134e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.437e1

GenotypeQuality
all individuals: 42763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.027960526315789e-4
allele num: 9728
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.402763177654302e-4
allele num: 66590
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

QD
type: SiteQuality
SIO_000300: 1.38e1

MQRankSum
type: SiteQuality
SIO_000300: -3.16e-1

DP
type: SiteQuality
SIO_000300: 1.658057e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

FS
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
all individuals: 535
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 8.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
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: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.657404e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

FS
type: SiteQuality
SIO_000300: 4.968e0

QD
type: SiteQuality
SIO_000300: 1.349e1

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2342
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.906e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.601e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e0

FS
type: SiteQuality
SIO_000300: 5.08e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

DP
type: SiteQuality
SIO_000300: 1.657714e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.504e0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8474
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variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 9.25e1
variant carriers: 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: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.33e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.47e-1

DP
type: SiteQuality
SIO_000300: 1.659314e6

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 2.345e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

DP
type: SiteQuality
SIO_000300: 1.659549e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.025e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.789e0

FS
type: SiteQuality
SIO_000300: 3.438e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.083e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 8471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 535
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 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: 900
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.396e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.659776e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.225e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.498e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2599
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8468
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 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: 11546
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.49e-1

DP
type: SiteQuality
SIO_000300: 1.660086e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

FS
type: SiteQuality
SIO_000300: 3.238e0

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.352e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2599
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2339
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 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: 66724
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.647920055775041e-4
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.660086e6

QD
type: SiteQuality
SIO_000300: 1.384e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.352e0

FS
type: SiteQuality
SIO_000300: 3.238e0

MQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
all individuals: 2594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.465603881476347e-4
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995024129972123e-5
allele num: 66722
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.915e0

MQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.660416e6

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8472
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
SIO_000300: 2.554e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.246e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.663e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.660239e6

QD
type: SiteQuality
SIO_000300: 1.304e1

GenotypeQuality
all individuals: 8471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1458
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 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: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 8614
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.74e-1

DP
type: SiteQuality
SIO_000300: 1.660464e6

FS
type: SiteQuality
SIO_000300: 7.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.535e0

MQRankSum
type: SiteQuality
SIO_000300: 9.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.275e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.8e1

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

GenotypeQuality
all individuals: 1457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 521
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 8.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.660539e6

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

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 9.25e1
variant carriers: 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: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.371e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 8.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.345e0

DP
type: SiteQuality
SIO_000300: 1.660507e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.407e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: -1.505e0

QD
type: SiteQuality
SIO_000300: 1.444e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.443e-1

DP
type: SiteQuality
SIO_000300: 1.660498e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8468
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2603
bin: 7.25e1
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GenotypeQuality
all individuals: 2336
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
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: 8612
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.66049e6

VQSLOD
type: SiteQuality
SIO_000300: -1.458e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 8.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.705e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.201e0

QD
type: SiteQuality
SIO_000300: 1.197e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 36
allele frequency: 3.114186851211073e-3
allele num: 11560
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: 138
allele frequency: 1.407875943684962e-2
allele num: 9802
num of homozygotes: 1

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: 78
allele frequency: 1.168994664588454e-3
allele num: 66724
num of homozygotes: 2

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

DP
type: SiteQuality
SIO_000300: 1.680952e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 514
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
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: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.032e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.94e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

VQSLOD
type: SiteQuality
SIO_000300: -5.029e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.655348e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.048e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
all individuals: 514
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variant carriers: 0

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

GenotypeQuality
all individuals: 8489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 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: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
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: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.048e0

QD
type: SiteQuality
SIO_000300: 1.391e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.032e0

VQSLOD
type: SiteQuality
SIO_000300: -5.029e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.655348e6

GenotypeQuality
all individuals: 43244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 4.080799836768007e-4
allele num: 9802
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

QD
type: SiteQuality
SIO_000300: 1.281e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

DP
type: SiteQuality
SIO_000300: 1.655411e6

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
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: 6612
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.754e0

DP
type: SiteQuality
SIO_000300: 1.656085e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.419e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeQuality
all individuals: 2606
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43231
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
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: 16
allele frequency: 9.689922480620155e-4
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.419e0

FS
type: SiteQuality
SIO_000300: 1.754e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.656085e6

QD
type: SiteQuality
SIO_000300: 1.256e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

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

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8495
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.108e0

DP
type: SiteQuality
SIO_000300: 1.655467e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

GenotypeQuality
all individuals: 8498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1279
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 520
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

DP
type: SiteQuality
SIO_000300: 1.65521e6

FS
type: SiteQuality
SIO_000300: 1.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
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: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.992266650680415e-5
allele num: 66724
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.003e0

FS
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-2

DP
type: SiteQuality
SIO_000300: 1.655227e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.236e1