1-2525424-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525424
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525424
    reference: chr 1
allele count: 1
allele frequency: 1.083658430862592e-5
allele num: 92280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1277-52A>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142606
  ensembl transcript: ENST00000469962
  gene symbol: MMEL1
  hgvsc: ENST00000469962.1:n.89A>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1721-52A>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1748-52A>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1748-23A>G
  variant of: http://identifiers.org/hgnc/14668
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6665
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5529
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-2525431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525431
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525431
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 89810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142606
  ensembl transcript: ENST00000469962
  gene symbol: MMEL1
  hgvsc: ENST00000469962.1:n.82C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1748-30C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1277-59C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1748-59C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1721-59C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11366
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8834
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-2525440-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525440
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525440
    reference: chr 1
allele count: 1
allele frequency: 1.190816423740116e-5
allele num: 83976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1277-68T>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1748-39T>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1748-68T>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142606
  ensembl transcript: ENST00000469962
  gene symbol: MMEL1
  hgvsc: ENST00000469962.1:n.73T>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1721-68T>C
  variant of: http://identifiers.org/hgnc/14668
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
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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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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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: 8608
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-2525441-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525441
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525441
    reference: chr 1
allele count: 2
allele frequency: 2.400211218587236e-5
allele num: 83326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1721-69A>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142606
  ensembl transcript: ENST00000469962
  gene symbol: MMEL1
  hgvsc: ENST00000469962.1:n.72A>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1748-69A>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1748-40A>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1277-69A>C
  variant of: http://identifiers.org/hgnc/14668
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13807
  bin: 7.5e0
  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
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 207
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19292
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-2525444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525444
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525444
    reference: chr 1
allele count: 5
allele frequency: 6.339706851955166e-5
allele num: 78868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1748-43G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1748-72G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142606
  ensembl transcript: ENST00000469962
  gene symbol: MMEL1
  hgvsc: ENST00000469962.1:n.69G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1721-72G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1277-72G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21731
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15064
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5511
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-2525445-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525445
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525445
    reference: chr 1
allele count: 3
allele frequency: 3.850102669404518e-5
allele num: 77920
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1748-73C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1748-44C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1721-73C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000142606
  ensembl transcript: ENST00000469962
  gene symbol: MMEL1
  hgvsc: ENST00000469962.1:n.68C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1277-73C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15672
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21392
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16420
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-2525809-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525809
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525809
    reference: chr 1
allele count: 1
allele frequency: 4.742933029785619e-5
allele num: 21084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1720+15C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1276+15C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1747+15C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1747+15C>G
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24700
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
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: 411
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
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genotype quality: GenotypeQuality
  all individuals: 557
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genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

1-2525810-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525810
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525810
    reference: chr 1
allele count: 1
allele frequency: 4.74158368895211e-5
allele num: 21090
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1747+14C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1720+14C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1747+14C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1276+14C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  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: 2282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-2525835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525835
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525835
    reference: chr 1
allele count: 1
allele frequency: 4.74743638435245e-5
allele num: 21064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1265G>A
  hgvsp: ENSP00000422492.1:p.Arg422Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1736G>A
  hgvsp: ENSP00000367668.3:p.Arg579Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1709G>A
  hgvsp: ENSP00000288709.6:p.Arg570Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1736G>A
  hgvsp: ENSP00000425477.1:p.Arg579Gln
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg579Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-2525836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525836
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525836
    reference: chr 1
allele count: 1
allele frequency: 4.746535029428517e-5
allele num: 21068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1708C>T
  hgvsp: ENSP00000288709.6:p.Arg570Ter
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1735C>T
  hgvsp: ENSP00000367668.3:p.Arg579Ter
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1735C>T
  hgvsp: ENSP00000425477.1:p.Arg579Ter
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1264C>T
  hgvsp: ENSP00000422492.1:p.Arg422Ter
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22097
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg579Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-2525841-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525841
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525841
    reference: chr 1
allele count: 1
allele frequency: 4.748338081671415e-5
allele num: 21060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1259C>A
  hgvsp: ENSP00000422492.1:p.Pro420Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1730C>A
  hgvsp: ENSP00000367668.3:p.Pro577Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1730C>A
  hgvsp: ENSP00000425477.1:p.Pro577Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1703C>A
  hgvsp: ENSP00000288709.6:p.Pro568Gln
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 22840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21879
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro577Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

1-2525852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525852
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525852
    reference: chr 1
allele count: 5
allele frequency: 2.3761999809904e-4
allele num: 21042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1719G>A
  hgvsp: ENST00000504800.1:c.1719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1719G>A
  hgvsp: ENST00000378412.3:c.1719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1692G>A
  hgvsp: ENST00000288709.6:c.1692G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1248G>A
  hgvsp: ENST00000502556.1:c.1248G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18719
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala573Ala
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

1-2525864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525864
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525864
    reference: chr 1
allele count: 9
allele frequency: 4.286530767765289e-4
allele num: 20996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1680G>A
  hgvsp: ENST00000288709.6:c.1680G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1707G>A
  hgvsp: ENST00000504800.1:c.1707G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1236G>A
  hgvsp: ENST00000502556.1:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1707G>A
  hgvsp: ENST00000378412.3:c.1707G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 13633
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala569Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

1-2525867-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525867
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525867
    reference: chr 1
allele count: 1
allele frequency: 4.76598989610142e-5
allele num: 20982
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1704G>A
  hgvsp: ENST00000378412.3:c.1704G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1704G>A
  hgvsp: ENST00000504800.1:c.1704G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1677G>A
  hgvsp: ENST00000288709.6:c.1677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1233G>A
  hgvsp: ENST00000502556.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14968
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12805
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala568Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-2525882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525882
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525882
    reference: chr 1
allele count: 2
allele frequency: 9.570293808019906e-5
allele num: 20898
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1689C>T
  hgvsp: ENST00000378412.3:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1689C>T
  hgvsp: ENST00000504800.1:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1662C>T
  hgvsp: ENST00000288709.6:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1218C>T
  hgvsp: ENST00000502556.1:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8955
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1689C>T
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-2525891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525891
    reference: chr 1
allele count: 1
allele frequency: 5.136106831022085e-5
allele num: 19470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1689-9C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1689-9C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1662-9C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1218-9C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-2525893-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525893
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525893
    reference: chr 1
allele count: 66
allele frequency: 3.866432337434095e-3
allele num: 17070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1218-11G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1689-11G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1689-11G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1662-11G>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6351
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

1-2525898-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525898
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525898
    reference: chr 1
allele count: 1
allele frequency: 4.974629390110437e-5
allele num: 20102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1689-16G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1662-16G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1689-16G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1218-16G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 802
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genotype quality: GenotypeQuality
  all individuals: 58
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genotype quality: GenotypeQuality
  all individuals: 11430
  bin: 7.5e0
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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: 290
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-2525899-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525899
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525899
    reference: chr 1
allele count: 1
allele frequency: 4.977600796416127e-5
allele num: 20090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1218-17C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1689-17C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1689-17C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1662-17C>G
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
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genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
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genotype depth: GenotypeDepth
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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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  bin: 9.75e1
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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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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: 21
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

1-2525907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525907
    reference: chr 1
allele count: 1
allele frequency: 4.98355427090601e-5
allele num: 20066
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1689-25C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1662-25C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1689-25C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1218-25C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1405
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  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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genotype depth: GenotypeDepth
  all individuals: 179
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-2525912-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525912
    reference: chr 1
allele count: 4
allele frequency: 1.983143282102132e-4
allele num: 20170
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1689-30G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1689-30G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1218-30G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1662-30G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10761
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/1-2525919-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525919
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525919
    reference: chr 1
allele count: 2
allele frequency: 9.873617693522907e-5
allele num: 20256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1218-37G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1662-37G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1689-37G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1689-37G>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-2525920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525920
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525920
    reference: chr 1
allele count: 2
allele frequency: 9.861932938856015e-5
allele num: 20280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1689-38G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1689-38G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1218-38G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1662-38G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13895
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 57
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10068
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 433
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-2525921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2525921
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2525921
    reference: chr 1
allele count: 3
allele frequency: 1.474926253687316e-4
allele num: 20340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1689-39C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1662-39C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1689-39C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1218-39C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14071
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 821
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
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genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4561
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

1-2526179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526179
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526179
    reference: chr 1
allele count: 20
allele frequency: 1.755957084408857e-4
allele num: 113898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+50C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+50C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+50C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+50C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8284
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8049
  bin: 9.75e1
  variant carriers: 20
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

1-2526187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526187
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526187
    reference: chr 1
allele count: 1
allele frequency: 8.748294082653882e-6
allele num: 114308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+42G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+42G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+42G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+42G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3057
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8007
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-2526191-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526191
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526191
    reference: chr 1
allele count: 2
allele frequency: 1.892899733101137e-5
allele num: 105658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+38C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+38C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+38C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+38C>G
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10239
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5640
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

1-2526191-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526191
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526192
    reference: chr 1
allele count: 63
allele frequency: 5.962634159268584e-4
allele num: 105658
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+37dupG
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+37dupG
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+37dupG
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+37dupG
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10239
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6428
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 15743
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

1-2526191-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526191
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526190
    reference: chr 1
allele count: 31
allele frequency: 2.933994586306763e-4
allele num: 105658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+37delG
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+37delG
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+37delG
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+37delG
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2477
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6428
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2657
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 5640
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 9
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: GC
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-2526193-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526193
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526193
    reference: chr 1
allele count: 23
allele frequency: 2.034102164992217e-4
allele num: 113072
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+36G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+36G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+36G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+36G>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 9
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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10654
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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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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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6837
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6781
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-2526194-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526194
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526194
    reference: chr 1
allele count: 1
allele frequency: 8.6629589202488e-6
allele num: 115434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+35G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+35G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+35G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+35G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
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: 10591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
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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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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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: 1490
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

1-2526195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526195
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526195
    reference: chr 1
allele count: 6
allele frequency: 5.189682910374176e-5
allele num: 115614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+34G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+34G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+34G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+34G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4599
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
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  variant carriers: 1
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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  bin: 2.25e1
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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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  bin: 9.75e1
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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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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-2526197-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526197
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526197
    reference: chr 1
allele count: 3
allele frequency: 2.593002350988798e-5
allele num: 115696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+32G>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+32G>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+32G>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+32G>C
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17181
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10660
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6922
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/1-2526199-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526199
    reference: chr 1
allele count: 19
allele frequency: 1.640504930149027e-4
allele num: 115818
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+30G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+30G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+30G>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+30G>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6937
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 7420
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

1-2526199-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526199
    reference: chr 1
allele count: 1
allele frequency: 8.634236474468563e-6
allele num: 115818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+30G>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+30G>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+30G>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+30G>C
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 6937
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-2526199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526199
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526199
    reference: chr 1
allele count: 7
allele frequency: 6.043965532127994e-5
allele num: 115818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+30G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+30G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+30G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+30G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 24312
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6937
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-2526200-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526200
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526200
    reference: chr 1
allele count: 5
allele frequency: 4.349490239743902e-5
allele num: 114956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+29C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+29C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+29C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+29C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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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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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-2526203-C-CATGCCGCAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526212
    reference: chr 1
allele count: 21
allele frequency: 1.803194229778465e-4
allele num: 116460
alternate allele: CATGCCGCAT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 267
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 273
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genotype quality: GenotypeQuality
  all individuals: 2361
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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: 6940
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 979
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1121
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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: 3260
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS

1-2526208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526208
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526208
    reference: chr 1
allele count: 2
allele frequency: 1.70984012994785e-5
allele num: 116970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+21G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+21G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+21G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+21G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
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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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 98
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  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

1-2526212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526212
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526212
    reference: chr 1
allele count: 1
allele frequency: 8.500510030601837e-6
allele num: 117640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+17G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+17G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+17G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+17G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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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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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: 1487
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  variant carriers: 0
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: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-2526215-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526215
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526215
    reference: chr 1
allele count: 2
allele frequency: 1.693738249690893e-5
allele num: 118082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+14C>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+14C>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+14C>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+14C>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2909
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6928
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

1-2526216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526216
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526216
    reference: chr 1
allele count: 14
allele frequency: 1.18535577606936e-4
allele num: 118108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+13G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+13G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+13G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+13G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19140
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6934
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

1-2526217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526217
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526217
    reference: chr 1
allele count: 10
allele frequency: 8.443663874628479e-5
allele num: 118432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+12C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+12C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+12C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+12C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13667
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8066
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6926
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 38
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30928
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

1-2526219-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526219
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526219
    reference: chr 1
allele count: 4
allele frequency: 3.369272237196766e-5
allele num: 118720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+10A>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+10A>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+10A>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+10A>G
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31386
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 3292
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6918
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

1-2526221-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526221
    reference: chr 1
allele count: 1
allele frequency: 8.413117733169558e-6
allele num: 118862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1688+8G>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1661+8G>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1688+8G>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1217+8G>C
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1688+8G>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-2526236-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526236
    reference: chr 1
allele count: 1
allele frequency: 8.325840077263796e-6
allele num: 120108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1210C>A
  hgvsp: ENSP00000422492.1:p.Pro404Thr
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1681C>A
  hgvsp: ENSP00000367668.3:p.Pro561Thr
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1681C>A
  hgvsp: ENSP00000425477.1:p.Pro561Thr
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1654C>A
  hgvsp: ENSP00000288709.6:p.Pro552Thr
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6920
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8229
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro561Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-2526243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526243
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526243
    reference: chr 1
allele count: 3
allele frequency: 2.492729538845035e-5
allele num: 120350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1203G>A
  hgvsp: ENST00000502556.1:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1647G>A
  hgvsp: ENST00000288709.6:c.1647G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1674G>A
  hgvsp: ENST00000378412.3:c.1674G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1674G>A
  hgvsp: ENST00000504800.1:c.1674G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys558Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-2526245-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526245
    reference: chr 1
allele count: 5
allele frequency: 4.152479029980898e-5
allele num: 120410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1201A>T
  hgvsp: ENSP00000422492.1:p.Lys401Ter
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1645A>T
  hgvsp: ENSP00000288709.6:p.Lys549Ter
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1672A>T
  hgvsp: ENSP00000367668.3:p.Lys558Ter
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1672A>T
  hgvsp: ENSP00000425477.1:p.Lys558Ter
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20209
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6923
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 89
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys558Ter
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

1-2526250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526250
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526250
    reference: chr 1
allele count: 2
allele frequency: 1.659255326209597e-5
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1640G>A
  hgvsp: ENSP00000288709.6:p.Arg547Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1667G>A
  hgvsp: ENSP00000425477.1:p.Arg556Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1667G>A
  hgvsp: ENSP00000367668.3:p.Arg556Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1196G>A
  hgvsp: ENSP00000422492.1:p.Arg399Gln
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6921
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg556Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum

1-2526251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526251
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526251
    reference: chr 1
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1666C>T
  hgvsp: ENSP00000367668.3:p.Arg556Trp
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1666C>T
  hgvsp: ENSP00000425477.1:p.Arg556Trp
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1639C>T
  hgvsp: ENSP00000288709.6:p.Arg547Trp
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1195C>T
  hgvsp: ENSP00000422492.1:p.Arg399Trp
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6920
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33508
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg556Trp
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-2526263-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526263
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526263
    reference: chr 1
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1183C>G
  hgvsp: ENSP00000422492.1:p.Leu395Val
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1627C>G
  hgvsp: ENSP00000288709.6:p.Leu543Val
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1654C>G
  hgvsp: ENSP00000367668.3:p.Leu552Val
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1654C>G
  hgvsp: ENSP00000425477.1:p.Leu552Val
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11034
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6920
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu552Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-2526267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526267
    reference: chr 1
allele count: 7
allele frequency: 5.79575750550597e-5
allele num: 120778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1179G>A
  hgvsp: ENST00000502556.1:c.1179G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1650G>A
  hgvsp: ENST00000504800.1:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1650G>A
  hgvsp: ENST00000378412.3:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1623G>A
  hgvsp: ENST00000288709.6:c.1623G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
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genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 47
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
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genotype quality: GenotypeQuality
  all individuals: 33570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg550Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-2526268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526268
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526268
    reference: chr 1
allele count: 2
allele frequency: 1.655903295247558e-5
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1622G>A
  hgvsp: ENSP00000288709.6:p.Arg541Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1649G>A
  hgvsp: ENSP00000425477.1:p.Arg550Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1178G>A
  hgvsp: ENSP00000422492.1:p.Arg393Gln
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1649G>A
  hgvsp: ENSP00000367668.3:p.Arg550Gln
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6917
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg550Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

1-2526269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526269
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526269
    reference: chr 1
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1177C>T
  hgvsp: ENSP00000422492.1:p.Arg393Trp
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1621C>T
  hgvsp: ENSP00000288709.6:p.Arg541Trp
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1648C>T
  hgvsp: ENSP00000367668.3:p.Arg550Trp
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1648C>T
  hgvsp: ENSP00000425477.1:p.Arg550Trp
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6916
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg550Trp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-2526273-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526273
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526273
    reference: chr 1
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1617C>A
  hgvsp: ENST00000288709.6:c.1617C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1644C>A
  hgvsp: ENST00000378412.3:c.1644C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1173C>A
  hgvsp: ENST00000502556.1:c.1173C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1644C>A
  hgvsp: ENST00000504800.1:c.1644C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33656
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala548Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-2526274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526274
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526274
    reference: chr 1
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1643C>T
  hgvsp: ENSP00000367668.3:p.Ala548Val
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1172C>T
  hgvsp: ENSP00000422492.1:p.Ala391Val
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1616C>T
  hgvsp: ENSP00000288709.6:p.Ala539Val
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1643C>T
  hgvsp: ENSP00000425477.1:p.Ala548Val
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6914
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala548Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

1-2526275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526275
    reference: chr 1
allele count: 2
allele frequency: 1.65576620581174e-5
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1171G>A
  hgvsp: ENSP00000422492.1:p.Ala391Thr
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1642G>A
  hgvsp: ENSP00000425477.1:p.Ala548Thr
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1615G>A
  hgvsp: ENSP00000288709.6:p.Ala539Thr
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1642G>A
  hgvsp: ENSP00000367668.3:p.Ala548Thr
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala548Thr
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-2526276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526276
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526276
    reference: chr 1
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1641C>T
  hgvsp: ENST00000504800.1:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1614C>T
  hgvsp: ENST00000288709.6:c.1614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1641C>T
  hgvsp: ENST00000378412.3:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1170C>T
  hgvsp: ENST00000502556.1:c.1170C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6916
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly547Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-2526280-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526280
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526280
    reference: chr 1
allele count: 2
allele frequency: 1.655492095025246e-5
allele num: 120810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1637T>C
  hgvsp: ENSP00000425477.1:p.Val546Ala
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1637T>C
  hgvsp: ENSP00000367668.3:p.Val546Ala
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1610T>C
  hgvsp: ENSP00000288709.6:p.Val537Ala
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1166T>C
  hgvsp: ENSP00000422492.1:p.Val389Ala
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6916
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val546Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-2526295-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526295
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526295
    reference: chr 1
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1595T>C
  hgvsp: ENSP00000288709.6:p.Leu532Pro
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1622T>C
  hgvsp: ENSP00000367668.3:p.Leu541Pro
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1622T>C
  hgvsp: ENSP00000425477.1:p.Leu541Pro
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1151T>C
  hgvsp: ENSP00000422492.1:p.Leu384Pro
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6915
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu541Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

1-2526304-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526304
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526304
    reference: chr 1
allele count: 2
allele frequency: 1.65708320214758e-5
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1586A>G
  hgvsp: ENSP00000288709.6:p.Glu529Gly
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1613A>G
  hgvsp: ENSP00000425477.1:p.Glu538Gly
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1613A>G
  hgvsp: ENSP00000367668.3:p.Glu538Gly
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1142A>G
  hgvsp: ENSP00000422492.1:p.Glu381Gly
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6915
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu538Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-2526317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526317
    reference: chr 1
allele count: 1
allele frequency: 8.30675172780436e-6
allele num: 120384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1129G>A
  hgvsp: ENSP00000422492.1:p.Asp377Asn
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1600G>A
  hgvsp: ENSP00000367668.3:p.Asp534Asn
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1600G>A
  hgvsp: ENSP00000425477.1:p.Asp534Asn
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1573G>A
  hgvsp: ENSP00000288709.6:p.Asp525Asn
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1485
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genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 32960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp534Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-2526318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526318
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526318
    reference: chr 1
allele count: 1
allele frequency: 8.30827005200977e-6
allele num: 120362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1128G>A
  hgvsp: ENST00000502556.1:c.1128G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1599G>A
  hgvsp: ENST00000378412.3:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1572G>A
  hgvsp: ENST00000288709.6:c.1572G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1599G>A
  hgvsp: ENST00000504800.1:c.1599G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6914
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8199
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genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu533Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

1-2526336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526336
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526336
    reference: chr 1
allele count: 1703
allele frequency: 1.425701130179992e-2
allele num: 119450
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1585-4G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1114-4G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1585-4G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1558-4G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 19627
  bin: 2.75e1
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 3.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 12364
  bin: 2.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 4.75e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 5.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 5.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 3.75e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 4.25e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30086
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 2
hgvs: c.1585-4G>A
num of homozygotes: 30
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS

1-2526337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526337
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526337
    reference: chr 1
allele count: 6
allele frequency: 5.0262201149329e-5
allele num: 119374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1585-5C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1558-5C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1585-5C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1114-5C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1585-5C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-2526346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526346
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526346
    reference: chr 1
allele count: 1
allele frequency: 8.419492809753141e-6
allele num: 118772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1585-14C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1585-14C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1114-14C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1558-14C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
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genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 118
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10884
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genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
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genotype depth: GenotypeDepth
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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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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: 650
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1090
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genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

1-2526352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526352
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526352
    reference: chr 1
allele count: 1
allele frequency: 8.439530762089629e-6
allele num: 118490
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1585-20T>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1114-20T>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1558-20T>C
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1585-20T>C
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10666
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
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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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6697
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  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

1-2526355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526355
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526355
    reference: chr 1
allele count: 1
allele frequency: 8.461382251404589e-6
allele num: 118184
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1585-23C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1585-23C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1114-23C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1558-23C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9643
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-2526362-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526362
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526362
    reference: chr 1
allele count: 3
allele frequency: 2.550890260700985e-5
allele num: 117606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1114-30C>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1558-30C>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1585-30C>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1585-30C>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6700
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 21520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

1-2526367-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526367
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526367
    reference: chr 1
allele count: 1
allele frequency: 8.523405270873819e-6
allele num: 117324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1585-35C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1558-35C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1114-35C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1585-35C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 1.75e1
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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: 1323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
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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  bin: 4.75e1
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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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  bin: 9.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 6698
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-2526370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526370
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526370
    reference: chr 1
allele count: 7
allele frequency: 5.999417199472051e-5
allele num: 116678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1114-38G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1585-38G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1585-38G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1558-38G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8227
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
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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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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

1-2526371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526371
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526371
    reference: chr 1
allele count: 3
allele frequency: 2.574444349094654e-5
allele num: 116530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1558-39C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1114-39C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1585-39C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1585-39C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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: 6.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 2983
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-2526380-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526380
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526380
    reference: chr 1
allele count: 3
allele frequency: 2.60321757692508e-5
allele num: 115242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1585-48C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1114-48C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1558-48C>G
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1585-48C>G
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6690
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-2526382-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526382
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526382
    reference: chr 1
allele count: 1
allele frequency: 8.743704532736431e-6
allele num: 114368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1585-50C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1558-50C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1585-50C>T
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1114-50C>T
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4698
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

1-2526667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 2526667
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 2526667
    reference: chr 1
allele count: 1
allele frequency: 8.98311174991017e-6
allele num: 111320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000425477
  ensembl transcript: ENST00000504800
  gene symbol: MMEL1
  hgvsc: ENST00000504800.1:c.1584+48G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000422492
  ensembl transcript: ENST00000502556
  gene symbol: MMEL1
  hgvsc: ENST00000502556.1:c.1113+48G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000288709
  ensembl transcript: ENST00000288709
  gene symbol: MMEL1
  hgvsc: ENST00000288709.6:c.1557+48G>A
  variant of: http://identifiers.org/hgnc/14668
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142606
  ensembl protein: ENSP00000367668
  ensembl transcript: ENST00000378412
  gene symbol: MMEL1
  hgvsc: ENST00000378412.3:c.1584+48G>A
  variant of: http://identifiers.org/hgnc/14668
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10740
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53854
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.205400192864031e-4
allele num: 8296
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.702e1

DP
type: SiteQuality
SIO_000300: 9.11239e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.807e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22264
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6055
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7734
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4702
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.54e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.695e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 8.54043e5

GenotypeQuality
all individuals: 129
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19697
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7528
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.700680272108843e-3
allele num: 588
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.80629e5

MQRankSum
type: SiteQuality
SIO_000300: -1.122e0

QD
type: SiteQuality
SIO_000300: 1.003e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.646e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 1806
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5649
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7016
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4338
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.687449610319806e-4
allele num: 7442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e0

VQSLOD
type: SiteQuality
SIO_000300: -5.296e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

DP
type: SiteQuality
SIO_000300: 7.76457e5

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 1.296344309048483e-4
allele num: 7714
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.420858198351804e-4
allele num: 7038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.427285971377154e-5
allele num: 46676
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

QD
type: SiteQuality
SIO_000300: 1.113e1

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

DP
type: SiteQuality
SIO_000300: 7.63145e5

GenotypeQuality
all individuals: 5418
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.429796968830426e-4
allele num: 6994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.647989452867502e-4
allele num: 6068
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.167504768510491e-5
allele num: 46136
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.89e-1

FS
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 9.09e0

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.45e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 7.56375e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.120573733751681e-4
allele num: 8924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.376e1

MQ
type: SiteQuality
SIO_000300: 5.299e1

FS
type: SiteQuality
SIO_000300: 5.528e0

VQSLOD
type: SiteQuality
SIO_000300: 3.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.364e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 5.16012e5

MQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.556187766714083e-4
allele num: 2812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.247e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

FS
type: SiteQuality
SIO_000300: 4.205e0

MQ
type: SiteQuality
SIO_000300: 5.555e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

DP
type: SiteQuality
SIO_000300: 5.1608e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.290000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.237e0

VQSLOD
type: SiteQuality
SIO_000300: -4.873e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.121076233183857e-4
allele num: 8920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.13604e5

FS
type: SiteQuality
SIO_000300: 5.579e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.39e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.427e0

QD
type: SiteQuality
SIO_000300: 1.265e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 2.427184466019417e-3
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 5.1282e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.08e-2

QD
type: SiteQuality
SIO_000300: 8.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.28e-2

FS
type: SiteQuality
SIO_000300: 8.287000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 5.574e1

GenotypeQuality
all individuals: 713
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 414
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.312335958005249e-3
allele num: 762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.11543e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.97e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.406e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.827e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e0

MQ
type: SiteQuality
SIO_000300: 5.822e1

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.665e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.439e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 556
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 4.484304932735426e-4
allele num: 8920
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.427184466019417e-3
allele num: 412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 5.03702e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.822e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-1

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

GenotypeQuality
all individuals: 410
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variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 6.75e1
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GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 1.137225170583776e-3
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.15e-2

FS
type: SiteQuality
SIO_000300: 3.284e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

DP
type: SiteQuality
SIO_000300: 4.92585e5

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.598e-1

GenotypeQuality
all individuals: 4240
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 410
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.556187766714083e-4
allele num: 2812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.96e-2

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.89996e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 699
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.158196134574087e-4
allele num: 2794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.538e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.75319e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.592e0

FS
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.98e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.101e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.259763164525069e-4
allele num: 7938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.96e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.64e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.756e1

FS
type: SiteQuality
SIO_000300: 5.07e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.58829e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
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allele frequency: 1.106427818756586e-2
allele num: 1898
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South Asian
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allele count: 14
allele frequency: 1.891891891891892e-3
allele num: 7400
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European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.557885141294439e-3
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.631578947368421e-3
allele num: 380
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 610
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.868e0

DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.96e-2

FS
type: SiteQuality
SIO_000300: 1.07091e2

MQ
type: SiteQuality
SIO_000300: 5.784e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 4509
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 34
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East Asian
type: Population
allele count: 0
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allele num: 702
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African
type: Population
allele count: 1
allele frequency: 4.006410256410256e-4
allele num: 2496
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.344e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.76e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 4.73813e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

VQSLOD
type: SiteQuality
SIO_000300: -3.004e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.124e0

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

GenotypeQuality
all individuals: 804
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.199040767386091e-4
allele num: 8340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.99e-2

FS
type: SiteQuality
SIO_000300: 1.2799e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.73e-1

DP
type: SiteQuality
SIO_000300: 4.74227e5

QD
type: SiteQuality
SIO_000300: 1.638e1

MQ
type: SiteQuality
SIO_000300: 5.733e1

GenotypeQuality
all individuals: 4518
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 696
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.95e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.037e0

FS
type: SiteQuality
SIO_000300: 2.927e0

QD
type: SiteQuality
SIO_000300: 1.234e1

MQ
type: SiteQuality
SIO_000300: 5.794e1

DP
type: SiteQuality
SIO_000300: 4.74281e5

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

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

GenotypeQuality
all individuals: 682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.57057843370626e-4
allele num: 8402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.154639175257732e-3
allele num: 194
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

DP
type: SiteQuality
SIO_000300: 4.77283e5

FS
type: SiteQuality
SIO_000300: 4.281e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: -6.172e-1

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4561
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.818608287724785e-4
allele num: 2558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.17e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.918e0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.439e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.265e0

DP
type: SiteQuality
SIO_000300: 4.78208e5

GenotypeQuality
all individuals: 684
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.90015600624025e-4
allele num: 2564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

DP
type: SiteQuality
SIO_000300: 4.78126e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.524e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.279999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.971e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.192e1

GenotypeQuality
all individuals: 720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.789792824658919e-4
allele num: 7916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

DP
type: SiteQuality
SIO_000300: 4.79041e5

FS
type: SiteQuality
SIO_000300: 3.498e0

VQSLOD
type: SiteQuality
SIO_000300: -1.015e0

QD
type: SiteQuality
SIO_000300: 1.488e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.26e-2

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

GenotypeQuality
all individuals: 2455
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63598
num of homozygotes: 0

East Asian
type: Population
allele count: 19
allele frequency: 2.225866916588566e-3
allele num: 8536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.24952878062926e-5
allele num: 13794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.534e0

DP
type: SiteQuality
SIO_000300: 1.744643e6

QD
type: SiteQuality
SIO_000300: 1.138e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.57e-1

GenotypeQuality
all individuals: 18226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568873548791968e-5
allele num: 63740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 1.757274e6

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
all individuals: 1066
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6428
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1553
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.686397517622854e-5
allele num: 59298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11632060727841e-4
allele num: 8958
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.824085e6

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.74e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

FS
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 2266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 2.75e1
variant carriers: 9

GenotypeQuality
all individuals: 5640
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 9
allele frequency: 8.732777023093344e-4
allele num: 10306
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.691853310361801e-4
allele num: 8126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 5.059192552868562e-4
allele num: 59298
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.814244250948872e-4
allele num: 8958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 1.126307320997587e-3
allele num: 12430
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.824085e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

FS
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

GenotypeQuality
all individuals: 2304
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2349
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1292
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 4
allele frequency: 3.881234232485931e-4
allele num: 10306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.2306177701206e-4
allele num: 8126
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.581603036392052e-4
allele num: 8958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.698236028196566e-4
allele num: 59298
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.022526146419951e-4
allele num: 12430
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.74e-2

QD
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

DP
type: SiteQuality
SIO_000300: 1.824085e6

GenotypeQuality
all individuals: 2612
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

South Asian
type: Population
allele count: 21
allele frequency: 1.513622603430878e-3
allele num: 13874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.170979198376458e-5
allele num: 63072
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 2.158e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 1.782628e6

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

QD
type: SiteQuality
SIO_000300: 1.457e1

GenotypeQuality
all individuals: 247
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64138
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.928086462519052e-5
allele num: 14434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.447e0

VQSLOD
type: SiteQuality
SIO_000300: -3.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.447e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.773693e6

GenotypeQuality
all individuals: 1216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2797
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.791981712678038e-5
allele num: 11374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14496
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.114566284779051e-4
allele num: 9776
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

FS
type: SiteQuality
SIO_000300: 8.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.856e0

DP
type: SiteQuality
SIO_000300: 1.776441e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23652
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.670278348589576e-5
allele num: 64236
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.105e0

FS
type: SiteQuality
SIO_000300: 2.07e0

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.781091e6

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeQuality
all individuals: 24312
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2791
bin: 7.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 64292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14536
num of homozygotes: 0

African
type: Population
allele count: 19
allele frequency: 1.93758923108301e-3
allele num: 9806
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.786149e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
all individuals: 1480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7420
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
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: 1
allele frequency: 1.555403471660549e-5
allele num: 64292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14536
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

DP
type: SiteQuality
SIO_000300: 1.786149e6

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7420
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
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: 6372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555403471660549e-5
allele num: 64292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14536
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.118702834998981e-4
allele num: 9806
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

DP
type: SiteQuality
SIO_000300: 1.786149e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

QD
type: SiteQuality
SIO_000300: 1.382e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

GenotypeQuality
all individuals: 6902
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.269199423233653e-5
allele num: 63804
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.832361773538245e-5
allele num: 11322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.794313e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.262e1

GenotypeQuality
all individuals: 369
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.322412832105035e-4
allele num: 64588
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.076086956521739e-4
allele num: 14720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9900
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.67e-1

DP
type: SiteQuality
SIO_000300: 1.804364e6

MQRankSum
type: SiteQuality
SIO_000300: -4.305e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.075e1

QD
type: SiteQuality
SIO_000300: 6.34e0

FS
type: SiteQuality
SIO_000300: 5.589e0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.086896125945362e-5
allele num: 64790
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.632e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.251e0

FS
type: SiteQuality
SIO_000300: 6.536e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

DP
type: SiteQuality
SIO_000300: 1.820538e6

GenotypeQuality
all individuals: 2880
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65068
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.852e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.157e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.007e0

VQSLOD
type: SiteQuality
SIO_000300: -1.467e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.836243e6

QD
type: SiteQuality
SIO_000300: 1.256e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

GenotypeQuality
all individuals: 2372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
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: 864
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.984126984126984e-4
allele num: 10080
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.28e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 4.208e0

VQSLOD
type: SiteQuality
SIO_000300: 7.38e-1

DP
type: SiteQuality
SIO_000300: 1.844401e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.975e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 9.25e1
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GenotypeQuality
all individuals: 7993
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.922360863537334e-4
allele num: 10098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.667770825665562e-5
allele num: 65208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
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: 15324
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

QD
type: SiteQuality
SIO_000300: 1.332e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 4.735e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

DP
type: SiteQuality
SIO_000300: 1.848043e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

GenotypeQuality
all individuals: 3284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.377536963908532e-4
allele num: 65334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 1.551e0

DP
type: SiteQuality
SIO_000300: 1.853116e6

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

GenotypeQuality
all individuals: 1484
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8100
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65432
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.484320557491289e-4
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.804e-1

FS
type: SiteQuality
SIO_000300: 2.281e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 1.857892e6

QD
type: SiteQuality
SIO_000300: 1.193e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 2373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8106
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15620
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.074e0

QD
type: SiteQuality
SIO_000300: 1.352e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

DP
type: SiteQuality
SIO_000300: 1.862589e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

GenotypeQuality
all individuals: 2912
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1488
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516760200212346e-5
allele num: 65930
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
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: 10290
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

DP
type: SiteQuality
SIO_000300: 1.881655e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.152e-1

QD
type: SiteQuality
SIO_000300: 7.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 3
allele frequency: 2.601005722212589e-4
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66034
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

MQ
type: SiteQuality
SIO_000300: 5.893e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.572e0

DP
type: SiteQuality
SIO_000300: 1.886708e6

FS
type: SiteQuality
SIO_000300: 1.796e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8253
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.939487975174554e-4
allele num: 10312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.541463562324018e-5
allele num: 66058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

FS
type: SiteQuality
SIO_000300: 3.477e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.887521e6

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 2916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 8.25e1
variant carriers: 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: 1.512538947877908e-5
allele num: 66114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
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: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

FS
type: SiteQuality
SIO_000300: 3.072e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.889124e6

QD
type: SiteQuality
SIO_000300: 1.407e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.25e1
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: 8642
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
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: 0
allele frequency: 0.0e0
allele num: 66124
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: 16422
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.889485e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQ
type: SiteQuality
SIO_000300: 5.932e1

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509889778046203e-5
allele num: 66230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.543e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.442e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

QD
type: SiteQuality
SIO_000300: 5.38e0

DP
type: SiteQuality
SIO_000300: 1.891679e6

MQ
type: SiteQuality
SIO_000300: 5.923e1

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

African
type: Population
allele count: 7
allele frequency: 6.771135616173341e-4
allele num: 10338
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: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.892183e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.328e0

QD
type: SiteQuality
SIO_000300: 1.116e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8252
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018959062915107e-5
allele num: 66248
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.433e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.215e0

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.892105e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.314e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 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: 8646
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509479531457553e-5
allele num: 66248
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.022e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.566e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 1.892046e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 9.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.012e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

QD
type: SiteQuality
SIO_000300: 9.1e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1214
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 66264
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 3.817e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-2

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

DP
type: SiteQuality
SIO_000300: 1.892315e6

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

GenotypeQuality
all individuals: 8259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66264
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: 10334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.89235e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.334e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6916
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509297271190534e-5
allele num: 66256
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

DP
type: SiteQuality
SIO_000300: 1.89252e6

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.163e1

FS
type: SiteQuality
SIO_000300: 3.304e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.014e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

GenotypeQuality
all individuals: 2912
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.356e0

FS
type: SiteQuality
SIO_000300: 3.446e0

QD
type: SiteQuality
SIO_000300: 1.784e1

DP
type: SiteQuality
SIO_000300: 1.892404e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: -3.603e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

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

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

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 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: 8642
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.9e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.979e-1

FS
type: SiteQuality
SIO_000300: 4.807e0

DP
type: SiteQuality
SIO_000300: 1.892666e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

GenotypeQuality
all individuals: 398
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
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: 16472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.891692e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.881e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 33483
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.942501942501943e-4
allele num: 10296
num of homozygotes: 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: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.626e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 1.890079e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3294
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

DP
type: SiteQuality
SIO_000300: 1.88417e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 2.993e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e0

QD
type: SiteQuality
SIO_000300: 7.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.404e0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32909
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.790483649892304e-5
allele num: 10214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66110
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.123e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.129e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 2.198e0

DP
type: SiteQuality
SIO_000300: 1.883487e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 3.439e1

VQSLOD
type: SiteQuality
SIO_000300: -4.806e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8166
bin: 9.75e1
variant carriers: 1662

GenotypeQuality
all individuals: 1137
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 100
allele frequency: 8.732099196646874e-3
allele num: 11452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 919
allele frequency: 1.398484341236266e-2
allele num: 65714
num of homozygotes: 11

Other
type: Population
allele count: 17
allele frequency: 1.910112359550562e-2
allele num: 890
num of homozygotes: 1

East Asian
type: Population
allele count: 4
allele frequency: 4.636068613815484e-4
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 409
allele frequency: 4.069651741293533e-2
allele num: 10050
num of homozygotes: 16

South Asian
type: Population
allele count: 228
allele frequency: 1.409844175117487e-2
allele num: 16172
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 26
allele frequency: 3.973105134474328e-3
allele num: 6544
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

QD
type: SiteQuality
SIO_000300: 1.41e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

DP
type: SiteQuality
SIO_000300: 1.893865e6

FS
type: SiteQuality
SIO_000300: 1.543e0

GenotypeQuality
all individuals: 1155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.134366531681028e-5
allele num: 65686
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

DP
type: SiteQuality
SIO_000300: 1.850174e6

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.333e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

GenotypeQuality
all individuals: 3213
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2774
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6698
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 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: 9910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529285823520416e-5
allele num: 65390
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.555e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.665e1

VQSLOD
type: SiteQuality
SIO_000300: -2.468e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.837e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 1.822972e6

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.015228426395939e-4
allele num: 9850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65262
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.8057e6

QD
type: SiteQuality
SIO_000300: 1.148e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

FS
type: SiteQuality
SIO_000300: 1.626e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 6698
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.53e1

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.787966e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.787e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

GenotypeQuality
all individuals: 1429
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.891551071878941e-4
allele num: 15860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

FS
type: SiteQuality
SIO_000300: 4.85e0

QD
type: SiteQuality
SIO_000300: 1.229e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

DP
type: SiteQuality
SIO_000300: 1.737632e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.323e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

GenotypeQuality
all individuals: 20629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545499505440158e-5
allele num: 64704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.528e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

FS
type: SiteQuality
SIO_000300: 5.315e0

DP
type: SiteQuality
SIO_000300: 1.715905e6

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: -3.059e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
all individuals: 6336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6696
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 410
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553084425669379e-5
allele num: 64388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.830439223697651e-4
allele num: 15664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.692929e6

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

FS
type: SiteQuality
SIO_000300: 1.751e0

QD
type: SiteQuality
SIO_000300: 1.346e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

GenotypeQuality
all individuals: 3872
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6692
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1422
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.665049449524165e-5
allele num: 64308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15666
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.685146e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.491e0

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e-1

FS
type: SiteQuality
SIO_000300: 3.68e0

QD
type: SiteQuality
SIO_000300: 1.146e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
SIO_000300: 5.878e1

GenotypeQuality
all individuals: 472
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 7.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63612
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.932740626207963e-4
allele num: 15522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.322e1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

DP
type: SiteQuality
SIO_000300: 1.643597e6

GenotypeQuality
all individuals: 2292
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584032947885316e-5
allele num: 63130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

DP
type: SiteQuality
SIO_000300: 1.639077e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1